SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes:
A3GALT2, A4GALT, AATK, ABCA7, ABCB8, ABCC3, ABCC5, ABCG4, ABHD17A, AC026703.1, AC079612.1, AC105020.1, AC126614.1, AC135178.1, ACADS, ACAP1, ACO1, ACOT4, ACSBG2, ACSM2A, ACSM2B, ACSM5, ACTR5, ACVRL1, ADAM33, ADAMTS12, ADAMTS16, ADAMTS3, ADAMTS6, ADAMTSL1, ADAMTSL5, ADCY2, ADCYAP1, ADIPOR1, ADTRP, AEBP1, AFF1, AGRN, AGXT2, AHNAK, AHRR, AKAP5, AKAP8, AKR1A1, ALDH16A1, ALDH1A3, ALDH1B1, ALKBH2, ALOX15, ALPL, AMACR, AMER3, AMH, AMPD3, ANAPC1, ANGPTL4, ANK1, ANKIB1, ANKRD16, ANKRD18A, ANKRD18B, ANKRD24, ANKRD30B, ANKRD33B, ANKRD55, ANKRD62, ANKRD65, ANKRD9, AP001631.10, AP1G2, AP2A1, AP2A2, AP4E1, AP5B1, APEH, APIP, APOA1BP, APOBEC3B, AQP3, ARC, ARFGAP1, ARFIP2, ARHGAP1, ARHGEF39, ARID1A, ARID3A, ARID5A, ARL4D, ARMC5, ARRDC5, ARVCF, ASB14, ASGR2, ASIC3, ASPDH, ASPM, ATF6B, ATHL1, ATP13A1, ATP2B4, ATP2C2, ATP8B3, ATP8B4, ATXN1, AXIN2, AZU1, B4GALNT4, BAG1, BAI1, BAIAP3, BCAM, BCL10, BCL7A, BECN1, BIRC8, BMP6, BOD1L1, BRD9, BRPF1, BSN, BTBD2, BTD, BTN1A1, BTN3A1, BTN3A3, C11orf16, C11orf24, C11orf35, C12orf4, C12orf49, C16orf3, C19orf59, C20orf96, C2CD4C, C2CD5, C2orf71, C3, C4A, C5orf22, C5orf34, C6orf25, C7, C9orf38, C9orf72, CA5B, CACNA1H, CACTIN, CADPS2, CAMSAP3, CAP2, CAPN11, CAPN13, CASC5, CCBL1, CCDC107, CCDC135, CCDC136, CCDC152, CCDC154, CCDC171, CCDC182, CCDC33, CCDC38, CCDC78, CCDC94, CCIN, CCNL2, CCS, CCT5, CD151, CD2BP2, CD81, CDC42EP2, CDCP2, CDH10, CDH18, CDH6, CDH7, CDH9, CDHR5, CDK11A, CDK12, CDK2, CDYL, CECR5, CELSR3, CEP192, CEP350, CEP72, CER1, CES1, CFHR5, CHAD, CHD8, CHRD, CHRNB2, CHST3, CHSY1, CHTOP, CIT, CKAP5, CKM, CLC, CLCN7, CLDN6, CLK4, CLMN, CMYA5, CNGB1, CNOT4, CNTD1, CNTD2, CNTLN, CNTNAP3, COL11A2, COL5A3, COL6A3, COL6A5, COLEC12, COLGALT1, COPS7A, COPS7B, CPNE5, CRABP2, CRIM1, CRLF3, CROCC, CRYBG3, CSMD1, CSNK1D, CTD-2368P22.1, CTD-3193O13.9, CTNNBIP1, CUBN, CXCL16, CYBA, CYFIP1, CYP21A2, CYP2W1, CYP4F12, CYTH4, DAGLA, DAP, DAXX, DBH, DBP, DCHS1, DDA1, DDX25, DDX39B, DENND1C, DESI1, DGKA, DHRS4, DHTKD1, DKFZP434E1119, DLG1, DLX2, DMRTC2, DNA2, DNAH1, DNAH12, DNAH14, DNAH2, DNAH3, DNAH5, DNAH7, DNAI1, DNAJC1, DOCK3, DOCK8, DPCR1, DROSHA, DSN1, DSP, DTNBP1, DUSP22, DUSP28, DUSP3, DUSP8, EBI3, EEF2, EEFSEC, EHBP1L1, EIF2AK3, EIF4G1, ELANE, ELOVL5, EMC10, EMR1, ENTHD1, ENTPD3, ENTPD4, EP300, EPB41L3, EPHA2, EPPK1, EPS8L1, EPS8L2, ERMAP, ERMP1, ERN2, ESCO2, ESYT3, EXOSC3, F2RL3, F5, FAM151A, FAM160B1, FAM166B, FAM194B, FAM200B, FAM205A, FAM210A, FAM214B, FAM230A, FAM53A, FAM89B, FAM8A1, FAN1, FANCE, FASN, FASTKD3, FBN1, FBXL18, FBXO10, FBXO36, FBXO42, FBXO45, FBXW10, FBXW12, FCGR3A, FCGR3B, FCHSD2, FERMT1, FGD2, FGFR3, FGR, FIBP, FICD, FLII, FN1, FNBP1, FNDC5, FNDC7, FOLR1, FOXA3, FOXD4, FOXN3, FREM1, FRMPD1, FSD1, FSIP1, FSIP2, FSTL3, FUT5, FYCO1, GABARAPL1, GADD45B, GAGE10, GAGE12H, GALR3, GARNL3, GAS8, GATM, GBA2, GBF1, GCM2, GFI1B, GGN, GHR, GHRL, GLDC, GNAL, GOLGA2, GOLGA4, GPR108, GPR113, GPR56, GPR78, GPRC5A, GPSM2, GPX8, GRAMD1A, GRHPR, GRIK4, GRM5, GSE1, GUF1, GUK1, HAGHL, HAPLN2, HAUS7, HCG27, HCN2, HDGFRP2, HDLBP, HEATR1, HEATR4, HECTD2, HEG1, HENMT1, HEYL, HIST1H1C, HIST1H2AA, HIST1H2BA, HIST1H3C, HIST1H4C, HIST1H4E, HIST1H4H, HIVEP1, HMCN1, HMHA1, HNF1B, HOOK2, HOXA13, HPR, HRAS, HS3ST6, HSD17B6, HSD17B8, HSP90AB1, HSPA1A, HTR5A, IDE, IDH3B, IER3, IFFO2, IFNA1, IFNA4, IFNAR1, IFNK, IGFBPL1, IGSF10, IGSF22, IKZF4, IL17C, IL33, IL7R, INF2, INSC, INSL4, INSRR, IQGAP1, IQGAP3, IRAK2, IRF2BP1, IRF7, IRX1, IRX2, ITFG2, ITGAD, ITGAE, ITIH1, ITIH3, ITPR3, JAK2, JAK3, JARID2, JSRP1, JUND, KANK1, KAT8, KCNH3, KCNK6, KDM1A, KDM4B, KDM4C, KIAA0020, KIAA0319, KIAA0430, KIAA0947, KIAA1161, KIAA1279, KIAA1324, KIAA1432, KIAA2026, KIF13A, KIF18A, KIF18B, KIF22, KIF24, KIFC3, KIR2DS4, KIT, KLF11, KLF16, KLHDC2, KLK11, KLK2, KLK7, KMT2A, KRT15, KRT35, KRT82, KRT84, KRTAP3-1, LAG3, LAMA1, LAMA2, LAMA3, LAMB2, LAP3, LARS2, LATS1, LDHD, LGI4, LILRA2, LILRB2, LILRB5, LLGL1, LMBRD2, LPPR3, LRIF1, LRP1, LRPAP1, LRRC14B, LRRC56, LRRC71, LTBR, LURAP1L, MAD1L1, MADCAM1, MAFA, MAK, MALRD1, MAP3K5, MAST3, MAZ, MBD3L2, MBD3L3, MCAM, MED16, MED26, MEGF6, MEGF9, MEI1, MELK, METRN, METTL12, METTL4, MFSD10, MFSD12, MGAT2, MICALL2, MINK1, MISP, MKNK2, MMP3, MOCOS, MOXD1, MPND, MPP1, MPPE1, MRFAP1, MROH2B, MRPL55, MS4A4A, MSH5, MST1, MTRR, MUC13, MUC17, MUC2, MUC21, MUC5AC, MUC5B, MUC6, MUM1, MVD, MYBBP1A, MYBPC3, MYO10, MYO9B, MYOM1, MYPN, NADK2, NAGPA, NBAS, NCAN, NCLN, NCOR1, NCR3, NDRG4, NDUFA10, NDUFA11, NDUFA13, NDUFA4L2, NDUFA9, NDUFB10, NDUFS6, NDUFS7, NEDD9, NELFCD, NELL2, NEU1, NF1, NFASC, NFE2L2, NFKBIE, NHLRC1, NINL, NISCH, NKD2, NLGN2, NLRC5, NLRP13, NLRP2, NLRP5, NLRP6, NME8, NOL6, NOMO3, NOP56, NOTCH4, NPIPB15, NR1I3, NR4A1, NRBP1, NRP2, NRXN3, NSUN2, NTHL1, NUP133, NUP153, NXPH4, NYNRIN, OCEL1, ODF3L2, OR10J3, OR1C1, OR1F1, OR2S2, OR2T8, OR4F17, OR4N2, OR52I2, OR6K2, OR8B8, OR8H3, ORMDL2, OSBP2, OTOF, OTOG, OTOL1, OXCT1, PACS1, PAIP1, PAK1, PAK6, PALM, PALMD, PAN2, PAX5, PCDH12, PCDHB8, PCDHGA10, PCDHGA11, PCDHGC3, PCDHGC5, PCID2, PCNXL2, PCSK4, PCYT1A, PDCD11, PDDC1, PDE6A, PDE6C, PDE8A, PDGFRA, PDZD2, PDZD8, PEG3, PEX1, PEX11G, PGA5, PHLDB3, PHLPP2, PI4KB, PIAS4, PIDD, PIEZO2, PIK3R4, PIRT, PIWIL2, PKD1, PKD1L2, PKD2L1, PKMYT1, PKN2, PKP3, PLB1, PLCD4, PLCXD3, PLD2, PLEC, PLEKHA7, PLEKHG4B, PLEKHH3, PLEKHM2, PLIN3, PLIN4, PLK5, PLXNA3, PMS2, PNPLA2, PNPLA6, POLE, POLR1E, POLR2A, POLR2E, POLR2L, POLRMT, POTEC, POU5F1, PPP1R10, PPP1R12C, PPP1R18, PPP1R1A, PPP1R3G, PPP2R5C, PPP2R5D, PPRC1, PRCC, PRDM1, PRDM9, PREX1, PROM2, PRPF31, PRPF4B, PRPF6, PRPF8, PRPSAP2, PRR14L, PRR25, PRSS3, PRSS57, PSG8, PSMD13, PSMD8, PSME4, PTBP1, PTGR1, PTK6, PTPRD, PTPRM, PTPRS, PTPRT, PVRL2, PYGB, PZP, RAB11FIP2, RABL5, RAD54L2, RANBP1, RAPGEF3, RASGRP4, RASSF7, RBM22, RDH5, RECK, RELN, RET, REXO1, RGPD1, RHOF, RHOT2, RIMBP3, RIN1, RNASE9, RNF10, RNF126, RNF168, RNF212, RNF26, RNH1, ROBO1, ROPN1L, RP11-1396O13.13, RP11-145E5.5, RP11-302B13.5, RP11-683L23.1, RP11-998D10.1, RPL3L, RPP40, RREB1, RSPH6A, RTEL1-TNFRSF6B, RUNDC1, RYR2, SBF2, SBNO2, SBP1, SCGB1C1, SCN1B, SCYL3, SDHA, SDIM1, SEC22A, SEH1L, SEMA5A, SEMA6B, SERPINB9, SET, SETD5, SFSWAP, SGOL2, SH2D6, SH3GL1, SH3TC1, SHB, SHC2, SHMT2, SHPK, SIGIRR, SIGLEC1, SIGLEC11, SIRT5, SLC10A4, SLC12A3, SLC12A7, SLC16A14, SLC16A3, SLC17A3, SLC1A1, SLC22A13, SLC22A18AS, SLC25A2, SLC25A42, SLC25A44, SLC2A5, SLC34A2, SLC39A14, SLC39A7, SLC41A1, SLC45A2, SLC51A, SLC5A10, SLC6A18, SLC6A19, SLC6A6, SLC9A3, SLC9A5, SLIT2, SMARCA4, SMCHD1, SMCO2, SMIM22, SMO, SMTNL1, SMTNL2, SMUG1, SNRNP48, SNUPN, SNX33, SOGA2, SORD, SOWAHB, SPATA31A1, SPDYE2, SPEF2, SPHK2, SPTBN4, SPTBN5, SRCAP, SRRM2, STAB1, STAP2, STK36, SULT1A2, SUN1, SUV420H2, SVEP1, SYNE2, SYNGAP1, SYVN1, SZT2, TACC3, TADA3, TAF10, TAF3, TAF5, TAF7, TAOK2, TAPBP, TAS1R2, TAS2R13, TBC1D31, TBCCD1, TBXA2R, TCEB2, TCF12, TCTE1, TECPR1, TEK, TEKT1, TELO2, TENC1, TEX28P1, TF, TFR2, TFRC, TG, TGM5, THEM6, THOC1, TICAM1, TIMM10B, TJP3, TLE2, TLR10, TLR6, TM4SF18, TMEM129, TMEM214, TMEM220, TMEM261, TMEM63C, TMEM80, TMEM95, TMIGD2, TMOD3, TMPPE, TNF, TNFAIP8L2, TNFRSF6B, TNFRSF8, TNFSF14, TNK1, TNPO2, TNR, TNRC18, TNXB, TOMM5, TPPP2, TPSG1, TRAV8-1, TRBV20OR9-2, TRERF1, TRIM29, TRIM38, TRIM49B, TRIM6, TRIM67, TRIO, TRIP13, TRMT6, TRPM3, TRPM7, TSC1, TSGA13, TSPAN11, TSPAN4, TSR3, TTC23L, TTC38, TTC39B, TTC6, TTLL7, TTN, TUBB, TUSC1, TXNDC2, TXNRD2, TYRP1, U2AF2, UBA7, UBAP2, UBE2O, UBE2S, UBN1, UBR5, UBTD1, UBXN6, UHRF2, UQCC2, USP29, USP37, USP6, UTP20, UTS2R, VN1R2, VPS13C, VPS18, VPS39, VWA1, VWA3A, VWA5A, WARS2, WDR18, WDR24, WDR60, WDR66, WDR81, WDR90, WFS1, WHSC1L1, WIZ, WNT3A, WRNIP1, WSCD2, YES1, ZBED4, ZBTB14, ZBTB46, ZBTB5, ZCCHC3, ZCCHC7, ZDHHC11B, ZFHX2, ZFR, ZFR2, ZFYVE1, ZFYVE28, ZIC2, ZMAT4, ZMYND11, ZNF106, ZNF131, ZNF160, ZNF283, ZNF286A, ZNF304, ZNF318, ZNF416, ZNF44, ZNF473, ZNF518B, ZNF519, ZNF530, ZNF541, ZNF550, ZNF554, ZNF558, ZNF563, ZNF578, ZNF587B, ZNF589, ZNF626, ZNF644, ZNF691, ZNF777, ZNF786, ZNF804A, ZNF823, ZNF880, ZNRF4,

Genes at Omim

A4GALT, ABCA7, ACADS, ACVRL1, AGRN, ALDH1A3, ALPL, AMACR, AMH, AMPD3, ANGPTL4, ANK1, AP4E1, AQP3, ARID1A, ARMC5, ASPM, ATXN1, AXIN2, BCL10, BCL7A, BTD, C2orf71, C3, C4A, C7, C9orf72, CACNA1H, CASC5, CCDC78, CCT5, CD151, CD81, CES1, CFHR5, CHD8, CHRNB2, CHST3, CHSY1, CIT, CLCN7, CNGB1, COL11A2, COL6A3, CSNK1D, CUBN, CYBA, CYP21A2, DBH, DCHS1, DHTKD1, DNA2, DNAH5, DNAI1, DOCK8, DSP, DTNBP1, EEF2, EIF2AK3, EIF4G1, ELANE, ELOVL5, EP300, EPHA2, ERMAP, ESCO2, EXOSC3, F5, FAN1, FANCE, FBN1, FCGR3A, FCGR3B, FGFR3, FIBP, FN1, FOLR1, FREM1, FYCO1, GAS8, GATM, GBA2, GCM2, GFI1B, GHR, GHRL, GLDC, GNAL, GPSM2, GRHPR, GUF1, HMCN1, HNF1B, HOXA13, HRAS, IDH3B, IFNA1, IL7R, INF2, IRF7, ITPR3, JAK2, JAK3, KANK1, KDM1A, KIAA0319, KIAA1279, KIF22, KIT, KLF11, KMT2A, LAMA1, LAMA2, LAMA3, LAMB2, LARS2, LRPAP1, MAD1L1, MAK, MGAT2, MMP3, MOCOS, MTRR, MUC5B, MVD, MYBPC3, MYO9B, MYPN, NADK2, NBAS, NCR3, NDUFA10, NDUFA11, NDUFA13, NDUFA9, NDUFS6, NDUFS7, NEU1, NF1, NHLRC1, NME8, NOP56, NSUN2, NTHL1, OTOF, OTOG, OXCT1, PACS1, PAX5, PCYT1A, PDE6A, PDE6C, PDGFRA, PEX1, PIEZO2, PKD1, PMS2, PNPLA2, PNPLA6, PPP2R5D, PRCC, PRPF31, PRPF6, PRPF8, RDH5, RELN, RET, RNF168, RNF212, RYR2, SBF2, SCN1B, SDHA, SETD5, SH3GL1, SLC12A3, SLC17A3, SLC1A1, SLC34A2, SLC39A14, SLC45A2, SLC6A19, SLC9A3, SMARCA4, SMCHD1, SORD, SRCAP, SYNE2, SYNGAP1, SZT2, TAPBP, TBXA2R, TCF12, TEK, TELO2, TF, TFR2, TFRC, TG, TGM5, TICAM1, TNF, TNXB, TRIO, TRPM7, TSC1, TTN, TUBB, TYRP1, UQCC2, VPS13C, WDR60, WDR81, WFS1, WHSC1L1, ZIC2, ZMYND11, ZNF644,
A4GALT NOR polyagglutination syndrome, 111400 (3)
[Blood group, P1Pk system, P(2) phenotype], 111400 (3)
[Blood group, P1Pk system, p phenotype], 111400 (3)
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ACVRL1 Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3)
AGRN Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)
ALDH1A3 Microphthalmia, isolated 8, 615113 (3)
ALPL Hypophosphatasia, adult, 146300 (3)
Hypophosphatasia, childhood, 241510 (3)
Hypophosphatasia, infantile, 241500 (3)
Odontohypophosphatasia, 146300 (3)
AMACR Alpha-methylacyl-CoA racemase deficiency, 614307 (3)
Bile acid synthesis defect, congenital, 4, 214950 (3)
AMH Persistent Mullerian duct syndrome, type I, 261550 (3)
AMPD3 [AMP deaminase deficiency, erythrocytic], 612874 (3)
ANGPTL4 Plasma triglyceride level QTL, low, 615881 (3)
ANK1 Spherocytosis, type 1, 182900 (3)
AP4E1 Spastic paraplegia 51, autosomal recessive, 613744 (3)
Stuttering, familial persistent, 1, 184450 (3)
AQP3 [Blood group GIL], 607457 (3)
ARID1A Coffin-Siris syndrome 2, 614607 (3)
ARMC5 ACTH-independent macronodular adrenal hyperplasia 2, 615954 (3)
ASPM Microcephaly 5, primary, autosomal recessive, 608716 (3)
ATXN1 Spinocerebellar ataxia 1, 164400 (3)
AXIN2 Colorectal cancer, somatic, 114500 (3)
Oligodontia-colorectal cancer syndrome, 608615 (3)
BCL10 ?Immunodeficiency 37, 616098 (3)
Lymphoma, MALT, somatic, 137245 (3)
{Lymphoma, follicular, somatic}, 605027 (3)
{Male germ cell tumor, somatic}, 273300, (3)
{Mesothelioma, somatic}, 156240 (3)
{Sezary syndrome, somatic}, (3)
BCL7A B-cell non-Hodgkin lymphoma, high-grade (3)
BTD Biotinidase deficiency, 253260 (3)
C2orf71 Retinitis pigmentosa 54, 613428 (3)
C3 C3 deficiency, 613779 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3)
{Macular degeneration, age-related, 9}, 611378 (3)
C4A C4a deficiency, 614380 (3)
[Blood group, Rodgers], 614374 (3)
C7 C7 deficiency, 610102 (3)
C9orf72 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (3)
CACNA1H Hyperaldosteronism, familial, type IV, 617027 (3)
{Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)
CASC5 Microcephaly 4, primary, autosomal recessive, 604321 (3)
CCDC78 Myopathy, centronuclear, 4, 614807 (3)
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
CD151 Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3)
[Blood group, Raph], 179620 (3)
CD81 Immunodeficiency, common variable, 6, 613496 (3)
CES1 Carboxylesterase 1 deficiency (3)
CFHR5 Nephropathy due to CFHR5 deficiency, 614809 (3)
CHD8 {Autism, susceptibility to, 18}, 615032 (3)
CHRNB2 Epilepsy, nocturnal frontal lobe, 3, 605375 (3)
CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)
CHSY1 Temtamy preaxial brachydactyly syndrome, 605282 (3)
CIT Microcephaly 17, primary, autosomal recessive, 617090 (3)
CLCN7 Osteopetrosis, autosomal dominant 2, 166600 (3)
Osteopetrosis, autosomal recessive 4, 611490 (3)
CNGB1 Retinitis pigmentosa 45, 613767 (3)
COL11A2 Deafness, autosomal dominant 13, 601868 (3)
Deafness, autosomal recessive 53, 609706 (3)
Fibrochondrogenesis 2, 614524 (3)
Otospondylomegaepiphyseal dysplasia, 215150 (3)
Stickler syndrome, type III, 184840 (3)
Weissenbacher-Zweymuller syndrome, 277610 (3)
COL6A3 Bethlem myopathy 1, 158810 (3)
Dystonia 27, 616411 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
CSNK1D Advanced sleep-phase syndrome, familial, 2, 615224 (3)
CUBN Megaloblastic anemia-1, Finnish type, 261100 (3)
CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3)
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)
DBH Dopamine beta-hydroxylase deficiency, 223360 (3)
[Dopamine-beta-hydroxylase activity levels, plasma] (3)
DCHS1 Mitral valve prolapse 2, 607829 (3)
Van Maldergem syndrome 1, 601390 (3)
DHTKD1 2-aminoadipic 2-oxoadipic aciduria, 204750 (3)
?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3)
DNA2 ?Seckel syndrome 8, 615807 (3)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (3)
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DNAI1 Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
DSP Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)
Epidermolysis bullosa, lethal acantholytic, 609638 (3)
Keratosis palmoplantaris striata II, 612908 (3)
Skin fragility-woolly hair syndrome, 607655 (3)
DTNBP1 Hermansky-Pudlak syndrome 7, 614076 (3)
EEF2 ?Spinocerebellar ataxia 26, 609306 (3)
EIF2AK3 Wolcott-Rallison syndrome, 226980 (3)
EIF4G1 {Parkinson disease 18}, 614251 (3)
ELANE Neutropenia, cyclic, 162800 (3)
Neutropenia, severe congenital 1, autosomal dominant, 202700 (3)
ELOVL5 Spinocerebellar ataxia 38, 615957 (3)
EP300 Colorectal cancer, somatic, 114500 (3)
Rubinstein-Taybi syndrome 2, 613684 (3)
EPHA2 Cataract 6, multiple types, 116600 (3)
ERMAP [Blood group, Radin], 111620 (3)
[Blood group, Scianna system], 111750 (3)
ESCO2 Roberts syndrome, 268300 (3)
SC phocomelia syndrome, 269000 (3)
EXOSC3 Pontocerebellar hypoplasia, type 1B, 614678 (3)
F5 Factor V deficiency, 227400 (3)
Thrombophilia due to activated protein C resistance, 188055 (3)
{Budd-Chiari syndrome}, 600880 (3)
{Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3)
{Stroke, ischemic, susceptibility to}, 601367 (3)
{Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3)
FAN1 Interstitial nephritis, karyomegalic, 614817 (3)
FANCE Fanconi anemia, complementation group E, 600901 (3)
FBN1 Acromicric dysplasia, 102370 (3)
Aortic aneurysm, ascending, and dissection (3)
Ectopia lentis, familial, 129600 (3)
Geleophysic dysplasia 2, 614185 (3)
MASS syndrome, 604308 (3)
Marfan lipodystrophy syndrome, 616914 (3)
Marfan syndrome, 154700 (3)
Stiff skin syndrome, 184900 (3)
Weill-Marchesani syndrome 2, dominant, 608328 (3)
FCGR3A Immunodeficiency 20, 615707 (3)
FCGR3B Neutropenia, alloimmune neonatal (3)
FGFR3 Achondroplasia, 100800 (3)
Bladder cancer, somatic, 109800 (3)
CATSHL syndrome, 610474 (3)
Cervical cancer, somatic, 603956 (3)
Colorectal cancer, somatic, 114500 (3)
Crouzon syndrome with acanthosis nigricans, 612247 (3)
Hypochondroplasia, 146000 (3)
LADD syndrome, 149730 (3)
Muenke syndrome, 602849 (3)
Nevus, epidermal, somatic, 162900 (3)
SADDAN, 616482 (3)
Spermatocytic seminoma, somatic, 273300 (3)
Thanatophoric dysplasia, type I, 187600 (3)
Thanatophoric dysplasia, type II, 187601 (3)
FIBP Thauvin-Robinet-Faivre syndrome, 617107 (3)
FN1 Glomerulopathy with fibronectin deposits 2, 601894 (3)
Plasma fibronectin deficiency, 614101 (1)
FOLR1 Neurodegeneration due to cerebral folate transport deficiency, 613068 (3)
FREM1 Bifid nose with or without anorectal and renal anomalies, 608980 (3)
Manitoba oculotrichoanal syndrome, 248450 (3)
Trigonocephaly 2, 614485 (3)
FYCO1 Cataract 18, autosomal recessive, 610019 (3)
GAS8 Ciliary dyskinesia, primary, 33, 616726 (3)
GATM Cerebral creatine deficiency syndrome 3, 612718 (3)
GBA2 Spastic paraplegia 46, autosomal recessive, 614409 (3)
GCM2 Hypoparathyroidism, familial isolated, 146200 (3)
GFI1B Bleeding disorder, platelet-type, 17, 187900 (3)
GHR Growth hormone insensitivity, partial, 604271 (3)
Increased responsiveness to growth hormone (3)
Laron dwarfism, 262500 (3)
{Hypercholesterolemia, familial, modifier of}, 143890 (3)
GHRL {Obesity, susceptibility to}, 601665 (3)
GLDC Glycine encephalopathy, 605899 (3)
GNAL Dystonia 25, 615073 (3)
GPSM2 Chudley-McCullough syndrome, 604213 (3)
GRHPR Hyperoxaluria, primary, type II, 260000 (3)
GUF1 ?Epileptic encephalopathy, early infantile, 40, 617065 (3)
HMCN1 {Macular degeneration, age-related, 1}, 603075 (3)
HNF1B Diabetes mellitus, noninsulin-dependent, 125853 (3)
Renal cysts and diabetes syndrome, 137920 (3)
{Renal cell carcinoma}, 144700 (3)
HOXA13 Guttmacher syndrome, 176305 (3)
Hand-foot-uterus syndrome, 140000 (3)
HRAS Congenital myopathy with excess of muscle spindles, 218040 (3)
Costello syndrome, 218040 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
{Bladder cancer, somatic}, 109800 (3)
{Nevus sebaceous or woolly hair nevus, somatic}, 162900 (3)
{Spitz nevus or nevus spilus, somatic}, 137550 (3)
{Thyroid carcinoma, follicular, somatic}, 188470 (3)
IDH3B Retinitis pigmentosa 46, 612572 (3)
IFNA1 Interferon, alpha, deficiency (1)
IL7R Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
INF2 Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
Glomerulosclerosis, focal segmental, 5, 613237 (3)
IRF7 ?Immunodeficiency 39, 616345 (3)
ITPR3 {Diabetes, type 1, susceptibility to}, 222100 (2)
JAK2 Erythrocytosis, somatic, 133100 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
Myelofibrosis, somatic, 254450 (3)
Polycythemia vera, somatic, 263300 (3)
Thrombocythemia 3, 614521 (3)
{Budd-Chiari syndrome, somatic}, 600800 (3)
JAK3 SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)
KANK1 Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
KDM1A Cleft palate, psychomotor retardation, and distinctive facial features, 616728 (3)
KIAA0319 {Dyslexia, susceptibility to, 2}, 600202 (3)
KIAA1279 Goldberg-Shprintzen megacolon syndrome, 609460 (3)
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3)
KIT Gastrointestinal stromal tumor, familial, 606764 (3)
Germ cell tumors, 273300 (3)
Leukemia, acute myeloid, 601626 (3)
Mast cell disease, 154800 (3)
Piebaldism, 172800 (3)
KLF11 Maturity-onset diabetes of the young, type VII, 610508 (3)
KMT2A Leukemia, myeloid/lymphoid or mixed-lineage (2)
Wiedemann-Steiner syndrome, 605130 (3)
LAMA1 Poretti-Boltshauser syndrome, 615960 (3)
LAMA2 Muscular dystrophy, congenital merosin-deficient, 607855 (3)
Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3)
LAMA3 Epidermolysis bullosa, generalized atrophic benign, 226650 (3)
Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Laryngoonychocutaneous syndrome, 245660 (3)
LAMB2 Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3)
Pierson syndrome, 609049 (3)
LARS2 ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3)
Perrault syndrome 4, 615300 (3)
LRPAP1 Myopia 23, autosomal recessive, 615431 (3)
MAD1L1 Lymphoma, somatic (3)
Prostate cancer, somatic, 176807 (3)
MAK Retinitis pigmentosa 62, 614181 (3)
MGAT2 Congenital disorder of glycosylation, type IIa, 212066 (3)
MMP3 {Coronary heart disease, susceptibility to, 6}, 614466 (3)
MOCOS Xanthinuria, type II, 603592 (3)
MTRR Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MUC5B {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
MVD Porokeratosis 7, multiple types, 614714 (3)
MYBPC3 Cardiomyopathy, dilated, 1MM, 615396 (3)
Cardiomyopathy, hypertrophic, 4, 115197 (3)
Left ventricular noncompaction 10, 615396 (3)
MYO9B {Celiac disease, susceptibility to, 4}, 609753 (3)
MYPN Cardiomyopathy, dilated, 1KK, 615248 (3)
Cardiomyopathy, familial restrictive, 4, 615248 (3)
Cardiomyopathy, hypertrophic, 22, 615248 (3)
NADK2 ?2,4-dienoyl-CoA reductase deficiency, 616034 (3)
NBAS Infantile liver failure syndrome 2, 616483 (3)
Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
NCR3 {Malaria, mild, susceptibility to}, 609148 (3)
NDUFA10 ?Leigh syndrome, 256000 (3)
NDUFA11 Mitochondrial complex I deficiency, 252010 (3)
NDUFA13 {Thyroid carcinoma, Hurthle cell}, 607464 (3)
NDUFA9 Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
NDUFS6 Mitochondrial complex I deficiency, 252010 (3)
NDUFS7 Leigh syndrome, 256000 (3)
NEU1 Sialidosis, type I, 256550 (3)
Sialidosis, type II, 256550 (3)
NF1 Leukemia, juvenile myelomonocytic, 607785 (3)
Neurofibromatosis, familial spinal, 162210 (3)
Neurofibromatosis, type 1, 162200 (3)
Neurofibromatosis-Noonan syndrome, 601321 (3)
Watson syndrome, 193520 (3)
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
NME8 Ciliary dyskinesia, primary, 6, 610852 (3)
NOP56 Spinocerebellar ataxia 36, 614153 (3)
NSUN2 Mental retardation, autosomal recessive 5, 611091 (3)
NTHL1 Familial adenomatous polyposis 3, 616415 (3)
OTOF Auditory neuropathy, autosomal recessive, 1, 601071 (3)
Deafness, autosomal recessive 9, 601071 (3)
OTOG Deafness, autosomal recessive 18B, 614945 (3)
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)
PACS1 Schuss-Hoeijmakers sydnrome, 615009 (3)
PAX5 {Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3)
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)
PDE6A Retinitis pigmentosa 43, 613810 (3)
PDE6C Cone dystrophy 4, 613093 (3)
PDGFRA Gastrointestinal stromal tumor, somatic, 606764 (3)
Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)
PEX1 Heimler syndrome 1, 234580 (3)
Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3)
Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3)
PIEZO2 ?Marden-Walker syndrome, 248700 (3)
Arthrogryposis, distal, type 3, 114300 (3)
Arthrogryposis, distal, type 5, 108145 (3)
PKD1 Polycystic kidney disease, adult type I, 173900 (3)
PMS2 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
Mismatch repair cancer syndrome, 276300 (3)
PNPLA2 Neutral lipid storage disease with myopathy, 610717 (3)
PNPLA6 ?Laurence-Moon syndrome, 245800 (3)
Boucher-Neuhauser syndrome, 215470 (3)
Oliver-McFarlane syndrome, 275400 (3)
Spastic paraplegia 39, autosomal recessive, 612020 (3)
PPP2R5D Mental retardation, autosomal dominant 35, 616355 (3)
PRCC Renal cell carcinoma, papillary, 605074 (3)
PRPF31 Retinitis pigmentosa 11, 600138 (3)
PRPF6 Retinitis pigmentosa 60, 613983 (3)
PRPF8 Retinitis pigmentosa 13, 600059 (3)
RDH5 Fundus albipunctatus, 136880 (3)
RELN Lissencephaly 2 (Norman-Roberts type), 257320 (3)
{Epilepsy, familial temporal lobe, 7}, 616436 (3)
RET Central hypoventilation syndrome, congenital, 209880 (3)
Medullary thyroid carcinoma, 155240 (3)
Multiple endocrine neoplasia IIA, 171400 (3)
Multiple endocrine neoplasia IIB, 162300 (3)
Pheochromocytoma, 171300 (3)
{Hirschsprung disease, susceptibility to, 1}, 142623 (3)
RNF168 RIDDLE syndrome, 611943 (3)
RNF212 Recombination rate QTL 1, 612042 (3)
RYR2 Arrhythmogenic right ventricular dysplasia 2, 600996 (3)
Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3)
SBF2 Charcot-Marie-Tooth disease, type 4B2, 604563 (3)
SCN1B Atrial fibrillation, familial, 13, 615377 (3)
Brugada syndrome 5, 612838 (3)
Cardiac conduction defect, nonspecific, 612838 (3)
Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3)
SDHA Cardiomyopathy, dilated, 1GG, 613642 (3)
Leigh syndrome, 256000 (3)
Mitochondrial respiratory chain complex II deficiency, 252011 (3)
Paragangliomas 5, 614165 (3)
SETD5 Mental retardation, autosomal dominant 23, 615761 (3)
SH3GL1 Leukemia, acute myeloid, 601626 (1)
SLC12A3 Gitelman syndrome, 263800 (3)
SLC17A3 [Uric acid concentration, serum, QTL4], 612671 (3)
{Gout susceptibility 4}, 612671 (3)
SLC1A1 Dicarboxylic aminoaciduria, 222730 (3)
{?Schizophrenia susceptibility 18}, 615232 (3)
SLC34A2 Pulmonary alveolar microlithiasis, 265100 (3)
SLC39A14 Hypermanganesemia with dystonia 2, 617013 (3)
SLC45A2 Albinism, oculocutaneous, type IV, 606574 (3)
[Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3)
[Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3)
[Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3)
SLC6A19 Hartnup disorder, 234500 (3)
Hyperglycinuria, 138500 (3)
Iminoglycinuria, digenic, 242600 (3)
SLC9A3 Diarrhea 8, secretory sodium, congenital, 616868 (3)
SMARCA4 Coffin-Siris syndrome 4, 614609 (3)
{Rhabdoid tumor predisposition syndrome 2}, 613325 (3)
SMCHD1 Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3)
SORD ?Cataract, congenital (2)
SRCAP Floating-Harbor syndrome, 136140 (3)
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)
SYNGAP1 Mental retardation, autosomal dominant 5, 612621 (3)
SZT2 Epileptic encephalopathy, early infantile, 18, 615476 (3)
TAPBP Bare lymphocyte syndrome, type I, 604571 (3)
TBXA2R {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3)
TCF12 Craniosynostosis 3, 615314 (3)
TEK Venous malformations, multiple cutaneous and mucosal, 600195 (3)
TELO2 You-Hoover-Fong syndrome, 616954 (3)
TF Atransferrinemia, 209300 (3)
TFR2 Hemochromatosis, type 3, 604250 (3)
TFRC Immunodeficiency 46, 616740 (3)
TG Thyroid dyshormonogenesis 3, 274700 (3)
{Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)
TGM5 Peeling skin syndrome 2, 609796 (3)
TICAM1 {Herpes simplex encephalitic, susceptibility to, 6}, 614850 (3)
TNF {Asthma, susceptibility to}, 600807 (3)
{Dementia, vascular, susceptibility to} (3)
{Malaria, cerebral, susceptibility to}, 611162 (3)
{Migraine without aura, susceptibility to}, 157300 (3)
{Septic shock, susceptibility to} (3)
TNXB Ehlers-Danlos syndrome due to tenascin X deficiency, 606408 (3)
Vesicoureteral reflux 8, 615963 (3)
TRIO Mental retardation, autosomal dominant 44, 617061 (3)
TRPM7 {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3)
TSC1 Lymphangioleiomyomatosis, 606690 (3)
Tuberous sclerosis-1, 191100 (3)
TTN Cardiomyopathy, dilated, 1G, 604145 (3)
Cardiomyopathy, familial hypertrophic, 9, 613765 (3)
Muscular dystrophy, limb-girdle, type 2J, 608807 (3)
Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)
Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)
Tibial muscular dystrophy, tardive, 600334 (3)
TUBB Cortical dysplasia, complex, with other brain malformations 6, 615771 (3)
Symmetric circumferential skin creases, congenital, 1, 156610 (3)
TYRP1 Albinism, oculocutaneous, type III, 203290 (3)
[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271 (3)
UQCC2 ?Mitochondrial complex III deficiency, nuclear type 7, 615824 (3)
VPS13C Parkinson disease 23, autosomal recessive, early onset, 616840 (3)
WDR60 Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
WFS1 ?Cataract 41, 116400 (3)
Deafness, autosomal dominant 6/14/38, 600965 (3)
Wolfram syndrome, 222300 (3)
Wolfram-like syndrome, autosomal dominant, 614296 (3)
{Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3)
WHSC1L1 Leukemia, acute myeloid, 601626 (3)
ZIC2 Holoprosencephaly 5, 609637 (3)
ZMYND11 Mental retardation, autosomal dominant 30, 616083 (3)
ZNF644 Myopia 21, autosomal dominant, 614167 (3)

Genes at Clinical Genomics Database

A4GALT, ACADS, ACVRL1, AGRN, ALDH1A3, ALPL, AMACR, AMH, AMPD3, ANK1, AP4E1, AQP3, ARID1A, ARMC5, ASPM, ATXN1, AXIN2, BCAM, BCL10, BTD, C3, C4A, C7, CCT5, CD151, CD81, CES1, CHD8, CHRNB2, CHST3, CHSY1, CLCN7, CNGB1, COL11A2, COL6A3, CSNK1D, CUBN, CYBA, CYP21A2, DBH, DCHS1, DHTKD1, DNA2, DNAH1, DNAH5, DNAI1, DOCK8, DSP, DTNBP1, EIF2AK3, EIF4G1, ELANE, ELOVL5, EP300, EPHA2, ERMAP, ESCO2, EXOSC3, F5, FAN1, FANCE, FBN1, FCGR3A, FERMT1, FGFR3, FN1, FOLR1, FREM1, FYCO1, GAS8, GATM, GBA2, GCM2, GFI1B, GHR, GLDC, GNAL, GPSM2, GRHPR, GRIK4, HMCN1, HNF1B, HOXA13, HRAS, IDH3B, IL7R, INF2, IRF7, JAK2, JAK3, KANK1, KDM1A, KIF22, KIT, KLF11, KMT2A, LAMA1, LAMA2, LAMA3, LAMB2, LARS2, LRP1, LRPAP1, MAK, MGAT2, MTRR, MVD, MYBPC3, MYPN, NADK2, NBAS, NDUFA10, NDUFA11, NDUFA13, NDUFA9, NDUFS6, NDUFS7, NEU1, NF1, NHLRC1, NME8, NOP56, NTHL1, OTOF, OTOG, OXCT1, PACS1, PAX5, PCYT1A, PDE6A, PDE6C, PDGFRA, PEX1, PIEZO2, PKD1, PLEC, PMS2, PNPLA2, PNPLA6, POLE, PPP2R5D, PRPF31, PRPF6, PRPF8, RDH5, RELN, RET, RNF168, RYR2, SBF2, SCN1B, SDHA, SETD5, SLC12A3, SLC1A1, SLC34A2, SLC41A1, SLC45A2, SLC6A19, SMARCA4, SMCHD1, SRCAP, SYNE2, SYNGAP1, SZT2, TAPBP, TBXA2R, TCF12, TEK, TF, TFR2, TFRC, TG, TGM5, TICAM1, TNXB, TSC1, TTN, TUBB, TYRP1, UQCC2, VPS13C, VPS39, WDR60, WDR81, WFS1, ZIC2, ZMYND11, ZNF644,
A4GALT Blood group, P system
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ACVRL1 Hereditary hemorrhagic telangiectasia, type 2
AGRN Myasthenic syndrome, congenital 8
ALDH1A3 Microphthalmia, isolated 8
ALPL Odontohypophosphatasia
Hypophosphatasia, infantile
AMACR Alpha-methylacyl-CoA racemase deficiency
Bile acid synthesis defect, congenital, 4
AMH Persistent Mullerian duct syndrome, type I
AMPD3 Erythrocytic AMP deaminase deficiency
ANK1 Spherocytosis, hereditary 1
AP4E1 Spastic paraplegia 51, autosomal recessive
Stuttering, familial persistent, 1
AQP3 Blood group, GIL
ARID1A Coffin-Siris syndrome 2
Mental retardation, autosomal dominant 14
ARMC5 ACTH-independent macronodular adrenal hyperplasia 2
ASPM Microcephaly, primary autosomal recessive, 5
ATXN1 Spinocerebellar ataxia 1
AXIN2 Oligodontia-colorectal cancer syndrome
BCAM Lutheran, null
Blood group, Auberger system
Blood group, Lutheran system
BCL10 Immunodeficiency 37
BTD Biotinidase deficiency
C3 Hemolytic uremic syndrome, atypical, susceptibility to, 5
Complement component 3 deficiency, autosomal recessive
C4A Blood group, Chido/Rodgers system
C7 Complement component 7 deficiency
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia
CD151 Raph blood group
CD81 Immunodeficiency, common variable, 6
CES1 Carboxylesterase 1 deficiency
CHD8 Autism, susceptibility to 18
CHRNB2 Epilepsy, nocturnal frontal lobe, type 3
CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations
CHSY1 Temtamy preaxial brachydactyly syndrome
CLCN7 Osteopetrosis, autosomal recessive 4
Osteopetrosis, autosomal dominant 2
CNGB1 Retinitis pigmentosa 45
COL11A2 Stickler syndrome, type III
Otospondylomegaepiphyseal dysplasia
Weissenbacher-Zweymuller syndrome
Fibrochondrogenesis 2
Deafness, autosomal recessive 53
Deafness, autosomal dominant 13
COL6A3 Dystonia 27
Bethlem myopathy 1
Ullrich congenital muscular dystrophy 1
CSNK1D Advanced sleep-phase syndrome, familial, 2
CUBN Megaloblastic anemia-1, Finnish type
CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA
CYP21A2 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
DBH Dopamine beta-hydroxylase deficiency
DCHS1 Mitral valve prolapse 2
DHTKD1 2-aminoadipic and 2-oxoadipic aciduria
Charcot-Marie-Tooth disease, type 2Q
DNA2 Seckel syndrome 8
Progressive external ophthalmoplegia with mitochondrial deletions, autosomal dominant, 6
DNAH1 Spermatogenic failure
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DNAI1 Ciliary dyskinesia, primary, 1
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive
DSP Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Cardiomyopathy, dilated, with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia, familial 8
DTNBP1 Hermansky-Pudlak syndrome 7
EIF2AK3 Wolcott-Rallison syndrome
Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
EIF4G1 Macular dystrophy with central cone involvement
Parkinson disease 18
ELANE Neutropenia, cyclic
Neutropenia, severe congenital 1, autosomal dominant
ELOVL5 Spinocerebellar ataxia 39
EP300 Rubinstein-Taybi syndrome 2
EPHA2 Cataract 6, multiple types
ERMAP Blood group, Radin
Blood group, Scianna system
ESCO2 Roberts syndrome
SC phocomelia syndrome
EXOSC3 Pontocerebellar hypoplasia type 1B
F5 Factor V deficiency
Thrombophilia due to activated protein C resistance
FAN1 Interstitial nephritis, karyomegalic
FANCE Fanconi anemia, complementation group E
FBN1 Marfan lipodystrophy syndrome
Shprintzen-Goldberg syndrome
MASS syndrome
Marfan syndrome
FCGR3A Immunodeficiency 20
FERMT1 Kindler syndrome
FGFR3 Muenke syndrome
Lacrimoauriculodentodigital syndrome (AD)
Crouzon syndrome with acanthosis nigricans
Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
FN1 Glomerulopathy with fibronectin deposits 2
FOLR1 Cerebral folate deficiency
FREM1 Congenital diaphragmatic hernia, autosomal recessive
Manitoba oculotrichoanal syndrome
Trigonocephaly 2
Bifid nose with or without anorectal and renal anomalies
FYCO1 Cataract, autosomal recessive congenital 2
GAS8 Ciliary dyskinesia, primary, 33
GATM Cerebral creatine deficiency syndrome 3
GBA2 Cerebellar ataxia with spasticity, autosomal recessive
GCM2 Hypoparathyroidism, familial isolated
GFI1B Bleeding disorder, platelet-type, 17
GHR Growth hormone insensitivity syndrome (Laron syndrome)
GLDC Glycine encephalopathy
GNAL Primary torsion dystonia
GPSM2 Deafness, autosomal recessive 82
Chudley-McCullough syndrome
GRHPR Hyperoxaluria, primary, type II
GRIK4 Response to antidepressant treatment with citalopram
HMCN1 Macular degeneration, age-related, 1
HNF1B Renal cell carcinoma, nonpapillary chromophobe
HOXA13 Hand-foot-uterus syndrome
Guttmacher syndrome
Hand-foot-genital syndrome
HRAS Congenital myopathy with excess of muscle spindles
Costello syndrome
IDH3B Retinitis pigmentosa, autosomal recessive, IDH3B-related
IL7R Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive
INF2 Charcot-Marie-Tooth disease, dominant intermediate E
Focal segmental glomerulosclerosis 5
IRF7 Immunodeficiency 39
JAK2 Thrombocythemia 3
JAK3 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, natural killer cell-negative
KANK1 Cerebral palsy, spastic quadriplegic, 2
KDM1A Cleft palate, psychomotor retardation, and distinctive facial features
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2
KIT Gastrointestinal stromal tumor
KLF11 Maturity-onset diabetes of the young, type VII
KMT2A Wiedemann-Steiner syndrome
LAMA1 Poretti-Boltshauser syndrome
LAMA2 Schizophrenia
Muscular dystrophy, congenital merosin-deficient, 1A
LAMA3 Epidermolysis bullosa, generalized atrophic benign
Epidermolysis bullosa, junctional, Herlitz type
Laryngoonychocutaneous syndrome
LAMB2 Nephrotic syndrome, type 5, with or without ocular abnormalities
Pierson syndrome
LARS2 Perrault syndrome 4
LRP1 Schizophrenia
LRPAP1 Myopia 23, autosomal recessive
MAK Retinitis pigmentosa 62
MGAT2 Congenital disorder of glycosylation, type IIa
MTRR Homocystinuria-megaloblastic anemia, cobalamin E type
MVD Porokeratosis 7
MYBPC3 Left ventricular noncompaction 10
Cardiomyopathy, dilated, 1MM
Cardiomyopathy, familial hypertrophic, 4
MYPN Cardiomyopathy, familial restrictive, 4
Cardiomyopathy, familial hypertrophic, 22
Cardiomyopathy, dilated, 1KK
NADK2 2,4-dienoyl-CoA reductase deficiency
NBAS Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome)
Infantile liver failure syndrome 2
NDUFA10 Leigh syndrome
Mitochondrial complex I deficiency
NDUFA11 Mitochondrial complex I deficiency
NDUFA13 Thyroid carcinoma, Hurthle cell
NDUFA9 Leigh syndrome
Mitochondrial complex I deficiency
NDUFS6 Mitochondrial complex I deficiency
NDUFS7 Leigh syndrome
Mitochondrial complex I deficiency
NEU1 Sialidosis, type II
Sialidosis, type I
NF1 Watson syndrome
Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora)
NME8 Ciliary dyskinesia, primary, 6
NOP56 Spinocerebellar ataxia 36
NTHL1 Familial adenomatous polyposis 3
OTOF Neuropathy, autosomal recessive, 1
Deafness, autosomal recessive 9
OTOG Deafness, autosomal recessive 18B
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency
PACS1 Mental retardation, autosomal dominant 17
PAX5 Pre-B cell acute lymphoblastic leukemia
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy
PDE6A Retinitis pigmentosa 43
PDE6C Cone dystrophy 4
PDGFRA Gastrointestinal stromal tumor
PEX1 Heimler syndrome 1
PIEZO2 Marden-Walker syndrome
Distal arthrogryposis type 5
Distal arthrogryposis type 3
PKD1 Polycystic kidney disease, adult type I
PLEC Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with pyloric atresia
Muscular dystrophy, limb-girdle, type 2Q
PMS2 Mismatch repair cancer syndrome
Colorectal cancer, hereditary nonpolyposis type 4
PNPLA2 Neutral lipid storage disease with myopathy
PNPLA6 Oliver-McFarlane syndrome
Laurence-Moon syndrome
Boucher-Neuhauser syndrome
POLE Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)
Colorectal cancer, susceptibility to, 12
PPP2R5D Mental retardation, autosomal dominant 35
PRPF31 Retinitis pigmentosa 11
PRPF6 Retinitis pigmentosa 60
PRPF8 Retinitis pigmentosa 13
RDH5 Fundus albipunctatus
RELN Lissencephaly 2
Epilepsy, familial temporal lobe, 7
RET Hirschsprung disease, susceptibility to 1
Pheochromocytoma
Medullary thyroid carcinoma, familial
Multiple endocrine neoplasia IIB
Multiple endocrine neoplasia, type IIA
Central hypoventilation syndrome, congenital
RNF168 RIDDLE syndrome
RYR2 Arrhythmogenic right ventricular dysplasia 2
Ventricular tachycardia, catecholaminergic polymorphic, 1
SBF2 Charcot-Marie-Tooth disease, type 4B2 with early-onset glaucoma
SCN1B Brugada syndrome 5
Atrial fibrillation, familial 13
SDHA Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
Cardiomyopathy, dilated, 1GG
Gastrointestinal stromal tumors
Paragangliomas 5
SETD5 Mental retardation, autosomal dominant 23
SLC12A3 Gitelman syndrome
SLC1A1 Dicarboxylic aminoaciduria
SLC34A2 Pulmonary alveolar microlithiasis
SLC41A1 Nephronophthisis-like ciliopathy
SLC45A2 Skin/hair/eye pigmentation 5
Oculocutaneous albinism, type IV
SLC6A19 Hartnup disease
SMARCA4 Rhabdoid tumor predisposition syndrome 2
SMCHD1 Facioscapulohumeral muscular dystrophy, type 2
SRCAP Floating-Harbor syndrome
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant
SYNGAP1 Mental retardation, autosomal dominant 5
SZT2 Epileptic encephalopathy, early infantile, 18
TAPBP Bare lymphocyte syndrome, type I
TBXA2R Bleeding disorder, platelet-type 13, susceptibility to
TCF12 Craniosynostosis 3
TEK Venous malformations, multiple cutaneous and mucosal
TF Atransferrinemia
TFR2 Hemochromatosis, type 3
TFRC Immunodeficiency 46
TG Thyroid dyshormonogenesis 3
TGM5 Peeling skin syndrome 2
TICAM1 Herpes simplex encephalitis, susceptibility to, 4
TNXB Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficiency
Vesicoureteral reflux 8
TSC1 Lymphangioleiomyomatosis
Tuberous sclerosis
TTN Cardiomyopathy, dilated, 1G
Cardiomyopathy, familial hypertrophic 9
TUBB Cortical dysplasia, complex, with other brain malformations 6
Congenital symmetric circumferential skin creases 1
TYRP1 Albinism, oculocutaneous, type III
UQCC2 Mitochondrial complex III deficiency, nuclear type 7
VPS13C Parkinson disease 23, autosomal recessive, early onset
VPS39 Schizophrenia
WDR60 Short -rib thoracic dysplasia 8 with or without polydactyly
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
WFS1 Wolfram syndrome
ZIC2 Holoprosencephaly 5
ZMYND11 Mental retardation, autosomal domianant, 30
ZNF644 Myopia 21, autosomal dominant

Genes at HGMD

Summary

Number of Variants: 1516
Number of Genes: 1047

Export to: CSV

A3GALT2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 33772682 47273.56 T C PASS 0/1 75 SYNONYMOUS_CODING LOW SILENT -0.29 None None None None None None None

A4GALT

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 22 . 43089379 686.51 T G PASS 0/1 10 SYNONYMOUS_CODING LOW SILENT None None None None None None None

AATK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 79094391 696.2 A G PASS 0/1 56 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ABCA7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 1055192 11689.56 G A PASS 0/1 63 SYNONYMOUS_CODING LOW SILENT -0.16 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1042810 39128.36 A G PASS 0/1 53 SYNONYMOUS_CODING LOW 0.62 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1047162 17063.54 A G PASS 0/1 137 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1056493 49498.78 G C PASS 1/1 67 SYNONYMOUS_CODING LOW SILENT -1.16 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1056228 3207.57 T C PASS 0/1 67 SYNONYMOUS_CODING LOW None None None None None None None

ABCB8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 7 . 150742412 96258.55 C T PASS 0/1 116 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ABCC3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 48762204 1220.63 C T PASS 1/1 40 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ABCC5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 3 . 183643468 1152.62 T C PASS 0/1 96 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 183643358 316.35 C T PASS 0/1 14 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ABCG4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 . 119024976 16786.46 C T PASS 0/1 76 SYNONYMOUS_CODING LOW 1.95 None None rs8192696 2 not_specified 1 None

ABHD17A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 1880951 44774.65 T C PASS 1/1 51 SYNONYMOUS_CODING LOW SILENT -2.03 None None None None None None None

AC026703.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 32789746 98255.74 T C PASS 0/1 45 SYNONYMOUS_CODING LOW None None None None None None None

AC079612.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 2 . 240500603 26101.67 T C PASS 0/1 93 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 240500392 3590.35 C A PASS 0/1 29 SYNONYMOUS_CODING LOW SILENT None None None None None None None

AC105020.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 15 . 75971117 78.51 C T PASS 0/1 29 SYNONYMOUS_CODING LOW None None None None None None None

AC126614.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 12 . 57810500 220317.9 T C PASS 1/1 38 SYNONYMOUS_CODING LOW SILENT 1.29 None None None None None None None

AC135178.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 8263060 148757.78 T C PASS 0/1 93 SYNONYMOUS_CODING LOW None None None None None None None

ACADS

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 12 . 121177227 800.63 T C PASS 0/1 65 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ACAP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 7247233 77667.15 A G PASS 1/1 45 SYNONYMOUS_CODING LOW None None None None None None None

ACO1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 32448907 434.63 C T PASS 0/1 50 SYNONYMOUS_CODING LOW None None None None None None None

ACOT4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 14 . 74060500 41906.4 G A PASS 1/1 3 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ACSBG2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 6156472 284867.99 T C PASS 1/1 58 SYNONYMOUS_CODING LOW -0.15 None None None None None None None

ACSM2A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 16 . 20480982 25138.76 A T PASS 1/1 26 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 20480994 20811.76 C T PASS 1/1 20 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 20480985 25007.76 G A PASS 1/1 27 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ACSM2B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 16 . 20554263 2525.33 G A PASS 1/1 47 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ACSM5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 16 . 20441019 2347.52 T C PASS 1/1 84 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ACTR5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 20 . 37384622 937.31 A G PASS 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None

ACVRL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 12 . 52314636 6082.04 G A PASS 0/1 41 SYNONYMOUS_CODING LOW -0.35 None None None None None None None

ADAM33

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 20 . 3660176 7261.63 C T PASS 0/1 39 SYNONYMOUS_CODING LOW None None None None None None None

ADAMTS12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 33596088 66982.23 A G PASS 0/1 13 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 rs760147804
dbSNP
33637794 51827.5 G A PASS 1/1 32 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ADAMTS16

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 5140857 4221.66 C T PASS 0/1 30 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 5303501 11395.2 C T PASS 0/1 88 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 5146282 55555.32 A G PASS 0/1 72 SYNONYMOUS_CODING LOW -1.57 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 5140845 4080.2 T A PASS 0/1 35 SYNONYMOUS_CODING LOW None None None None None None None

ADAMTS3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 4 . 73149092 8644.84 A C PASS 0/1 12 SYNONYMOUS_CODING LOW None None None None None None None

ADAMTS6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 64769450 591.15 G T PASS 0/1 9 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ADAMTSL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 18777370 20558.1 T C PASS 1/1 231 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 18906749 794.64 C T PASS 0/1 80 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 18775812 13361.48 C A PASS 1/1 84 SYNONYMOUS_CODING LOW SILENT -0.18 None None None None None None None

ADAMTSL5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 1507271 446.63 C T PASS 0/1 36 SYNONYMOUS_CODING LOW SILENT 5.66 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 1510662 3193.05 A G PASS 1/1 21 SYNONYMOUS_CODING LOW None None None None None None None

ADCY2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 7757602 64107.18 C T,* PASS 0/2 21 SYNONYMOUS_CODING LOW None None None None None None None

ADCYAP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 18 . 907709 725.66 A G PASS 0/1 82 SYNONYMOUS_CODING LOW 1.18 None None None None None None None

ADIPOR1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 202920079 16125.15 T C PASS 1/1 7 SYNONYMOUS_CODING LOW None None None None None None None

ADTRP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 6 . 11723599 38041.98 G A PASS 0/1 18 SYNONYMOUS_CODING LOW None None None None None None None

AEBP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 7 . 44149675 5004.29 T C PASS 0/1 29 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 44146206 927.5 C G PASS 0/1 9 SYNONYMOUS_CODING LOW None None None None None None None

AFF1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 4 . 88036410 11497.61 T C PASS 0/1 7 SYNONYMOUS_CODING LOW SILENT None None None None None None None

AGRN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 979496 7139.58 T C PASS 1/1 154 SYNONYMOUS_CODING LOW -1.06 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 978812 2145.18 G C PASS 1/1 31 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 978953 2556.26 C G PASS 1/1 77 SYNONYMOUS_CODING LOW -0.89 None None None None None None None

AGXT2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 35026578 43471.39 A G PASS 1/1 38 SYNONYMOUS_CODING LOW None None None None None None None

AHNAK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 . 62297372 101810.75 G C PASS 1/1 17 SYNONYMOUS_CODING LOW None None None None None None None

AHRR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 434607 4210.22 G C PASS 1/1 58 SYNONYMOUS_CODING LOW 0.18 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 353936 35681.1 T C PASS 1/1 42 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 rs778799504
dbSNP
413479 40623.66 G C PASS 0/1 70 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 413476 19544.27 G A PASS 0/1 70 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 413524 16457.61 G C PASS 0/1 49 SYNONYMOUS_CODING LOW None None None None None None None

AKAP5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 14 . 64935443 834.19 A G PASS 0/1 79 SYNONYMOUS_CODING LOW None None None None None None None

AKAP8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 15469847 1580.64 G A PASS 0/1 30 SYNONYMOUS_CODING LOW SILENT 5.82 None None None None None None None

AKR1A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 46035598 3562.57 C T PASS 0/1 159 SYNONYMOUS_CODING LOW None None None None None None None

ALDH16A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 49972201 9370.72 T A PASS 0/1 61 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 49972209 9063.84 G A PASS 0/1 58 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 49971820 43591.2 C T PASS 0/1 266 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ALDH1A3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 15 rs749061521
dbSNP
101427879 963.0 C T PASS 1/1 5 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ALDH1B1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 38396068 81154.55 G T PASS 0/1 143 SYNONYMOUS_CODING LOW 3.85 None None rs2073478 2 not_specified 1 None
View 23 recalibrated filtered postcgp gqfiltered 9 . 38395943 200087.2 T C PASS 1/1 120 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ALKBH2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 12 . 109526297 12307.3 C T PASS 0/1 48 SYNONYMOUS_CODING LOW None None None None None None None

ALOX15

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 17 . 4544941 1269.31 C T PASS 0/1 41 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 4536206 59597.63 C G PASS 1/1 96 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 4536217 15191.3 A G,C PASS 0/1 118 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 17 . 4536237 54569.19 T C PASS 0/1 174 SYNONYMOUS_CODING LOW None None None None None None None

ALPL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 1 . 21890615 263454.89 G A PASS 1/1 68 SYNONYMOUS_CODING LOW None None None None None None None

AMACR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 34007995 8025.79 C T PASS 0/1 114 SYNONYMOUS_CODING LOW 0.94 None None rs3195676 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33988430 1405.42 C T PASS 0/1 9 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33989413 131600.74 C T PASS 1/1 79 SYNONYMOUS_CODING LOW SILENT 2.43 None None rs2278008 3 not_specified 0 None

AMER3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 2 . 131520389 5281.26 T C PASS 1/1 88 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 rs762042767
dbSNP
131520113 20314.64 C T PASS 1/1 219 SYNONYMOUS_CODING LOW SILENT None None None None None None None

AMH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 2251818 28071.26 T C PASS 1/1 130 SYNONYMOUS_CODING LOW 0.79 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 2249478 20171.73 G T PASS 1/1 98 SYNONYMOUS_CODING LOW SILENT 1.77 None None None None None None None

AMPD3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 11 . 10500217 55741.61 T C PASS 0/1 95 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ANAPC1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 2 . 112588931 639.42 C T PASS 0/1 27 SYNONYMOUS_CODING LOW None None None None None None None

ANGPTL4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 8430881 4404.37 G A PASS 0/1 28 SYNONYMOUS_CODING LOW None None None None None None None

ANK1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 8 . 41530402 11042.59 C T PASS 1/1 30 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ANKIB1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 7 . 92015951 4050.71 A G PASS 0/1 5 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ANKRD16

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 10 . 5925043 2539.92 T C PASS 1/1 14 SYNONYMOUS_CODING LOW None None None None None None None

ANKRD18A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 38615701 26878.84 C T PASS 0/1 69 SYNONYMOUS_CODING LOW -0.61 None None None None None None None

ANKRD18B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 33567130 51.84 G A PASS 0/1 4 SYNONYMOUS_CODING LOW SILENT 5.18 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 33524686 2716.7 G A PASS 0/1 121 SYNONYMOUS_CODING LOW 1.19 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 33541218 58.49 G C PASS 0/1 35 SYNONYMOUS_CODING LOW SILENT -0.70 None None None None None None None

ANKRD24

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 19 . 4198157 533.8 C T PASS 0/1 45 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 4217959 1631.48 A G PASS 0/1 42 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 4217590 280.37 G A PASS 0/1 18 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ANKRD30B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 18 . 14848821 13824.12 C T PASS 1/1 23 SYNONYMOUS_CODING LOW SILENT -0.97 None None None None None None None

ANKRD33B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 5 . 10564734 1243.18 C T PASS 1/1 24 SYNONYMOUS_CODING LOW None None None None None None None