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
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Genes:
AADACL3, ABCA4, ABCD3, ABL2, AC004824.2, AC092811.1, AC096644.1, ACADM, ACBD3, ACP6, ACTL8, ACTN2, ACTRT2, ADAM15, ADAM30, ADAMTS4, ADAMTSL4, ADAR, ADCK3, ADCY10, ADORA1, ADORA3, AGL, AGMAT, AGO4, AGRN, AGT, AGTRAP, AHCTF1, AHDC1, AIDA, AIM1L, AJAP1, AK4, AK5, AKNAD1, AKR7A2, AKR7L, AL020996.1, AL590822.1, ALDH4A1, ALDH9A1, ALG6, ALPL, AMPD1, AMPD2, ANKRD35, ANP32E, ANXA9, AP4B1, APCS, APITD1-CORT, APOA1BP, AQP10, ARHGAP29, ARHGAP30, ARHGEF10L, ARHGEF11, ARHGEF16, ARHGEF19, ARID4B, ARTN, ASH1L, ASPM, ASTN1, ATF6, ATP13A2, ATP1A4, ATP2B4, ATP8B2, ATPAF1, AUNIP, AXDND1, B3GALNT2, B4GALT3, BAI2, BCAN, BCAR3, BCL2L15, BEND5, BEST4, BMP8A, BMP8B, BNIPL, BPNT1, BRDT, C1ORF220, C1QA, C1orf105, C1orf106, C1orf111, C1orf112, C1orf116, C1orf131, C1orf141, C1orf145, C1orf147, C1orf158, C1orf159, C1orf167, C1orf170, C1orf173, C1orf174, C1orf177, C1orf189, C1orf194, C1orf195, C1orf198, C1orf204, C1orf210, C1orf213, C1orf222, C1orf227, C1orf27, C1orf53, C1orf63, C1orf85, C1orf86, C1orf87, C1orf94, C2CD4D, C4BPA, C4BPB, C8A, C8B, CA6, CACHD1, CACNA1E, CACNA1S, CAMK1G, CAMTA1, CAP1, CAPN2, CAPN8, CAPN9, CAPZA1, CAPZB, CASQ2, CASZ1, CATSPER4, CCBL2, CCDC17, CCDC18, CCDC181, CCDC19, CCDC24, CCDC27, CD101, CD34, CD52, CDA, CDC42BPA, CDC7, CDCP2, CDK11A, CDK18, CELA2A, CELA2B, CELA3A, CELA3B, CELSR2, CENPF, CEP104, CEP170, CEP350, CEP85, CEPT1, CERS2, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CHD1L, CHD5, CHI3L1, CHI3L2, CHIA, CLCA1, CLCA2, CLCA4, CLCN6, CLCNKA, CLCNKB, CLDN19, CMPK1, CNR2, CNST, COA6, COA7, COG2, COL11A1, COL16A1, COL24A1, COLGALT2, COPA, CPSF3L, CR1, CR1L, CR2, CRB1, CRCT1, CRNN, CROCC, CRYZ, CSF1, CSF3R, CSMD2, CTH, CTSK, CTTNBP2NL, CYB5R1, CYP2J2, CYP4A11, DARC, DBT, DCAF6, DCST1, DCST2, DDI2, DDOST, DDR2, DDX20, DDX59, DEDD, DEGS1, DENND2C, DFFB, DHCR24, DHRS3, DHX9, DIEXF, DISC1, DISP1, DLEU2L, DMBX1, DMRTA2, DNAH14, DNAJC11, DNAJC16, DNALI1, DNASE2B, DNM3, DNTTIP2, DPT, DPYD, DSTYK, DTL, DUSP10, DUSP27, DVL1, E2F2, ECE1, ECM1, EDARADD, EFCAB7, EFHD2, EIF2D, EIF4G3, ELAVL4, EMC1, EPHA10, EPHA2, EPHA8, EPHB2, EPRS, EPS15, EPS8L3, ERI3, ERMAP, ERO1LB, ESRRG, ETNK2, ETV3L, EVI5, EXO1, EXO5, EXOSC10, EXTL1, F13B, F3, F5, FAAH, FAM110D, FAM131C, FAM151A, FAM177B, FAM212B, FAM231D, FAM46B, FAM46C, FAM63A, FAM71A, FBLIM1, FBXO2, FBXO42, FBXO6, FCGR2A, FCGR2B, FCGR2C, FCGR3B, FCRL1, FCRL3, FCRL4, FCRL5, FCRLA, FCRLB, FHAD1, FLG, FLG2, FMN2, FMO5, FMOD, FNDC7, FOXD2, FOXD3, FOXJ3, FOXO6, FPGT, FPGT-TNNI3K, FRRS1, FUCA1, GABPB2, GABRD, GADD45A, GBP1, GBP2, GBP3, GBP5, GBP6, GBP7, GCSAML, GFI1, GIPC2, GJA4, GJA8, GJA9, GJB5, GLIS1, GLRX2, GLTPD1, GNAT2, GNG4, GNPAT, GON4L, GORAB, GPATCH4, GPN2, GPR153, GPR161, GPR37L1, GPR88, GPX7, GRHL3, GRIK3, GSTM3, GSTM4, GTF2B, GUCA2A, H6PD, HAO2, HDGF, HEATR1, HES3, HES4, HEYL, HFM1, HHAT, HIPK1, HIST3H3, HIVEP3, HMCN1, HMGB4, HMGCL, HNRNPCL1, HNRNPU, HOOK1, HPCAL4, HRNR, HS2ST1, HSD17B7, HSD3B1, HSPA6, HSPB7, HSPG2, HTR6, HYI, IBA57, ID3, IER5, IFI16, IFI44, IFI44L, IFRG15, IGFN1, IGSF21, IGSF3, IKBKE, IL12RB2, IL19, IL22RA1, IL23R, ILDR2, INADL, INPP5B, INSL5, INSRR, IPO13, IQGAP3, IRF2BP2, IRF6, ISG15, ITGA10, ITGB3BP, ITLN1, ITLN2, ITPKB, IVL, JAK1, JMJD4, JUN, KANK4, KAZN, KCNA10, KCND3, KCNH1, KCNK1, KCNN3, KCNQ4, KCNT2, KCTD3, KDM4A, KDM5B, KIAA0040, KIAA0319L, KIAA1107, KIAA1324, KIAA1522, KIAA1614, KIAA2013, KIF14, KIF17, KIF1B, KIF26B, KISS1, KLF17, KLHDC7A, KLHDC8A, KLHL17, KLHL21, KMO, KPRP, L1TD1, LACTBL1, LAD1, LAMB3, LAMC1, LAMC2, LAMTOR5, LAPTM5, LBR, LCE1E, LCE1F, LCE5A, LDLRAD2, LDLRAP1, LEFTY1, LEPRE1, LGALS8, LGR6, LIN9, LIX1L, LMNA, LMOD1, LMX1A, LOR, LPHN2, LPPR4, LPPR5, LRIF1, LRIG2, LRRC42, LRRC47, LRRC53, LRRC71, LRRC8C, LRRIQ3, LUZP1, LYPLAL1, LYST, MACF1, MAGI3, MAP10, MAP3K6, MAP7D1, MARC1, MASP2, MAST2, MATN1, MCOLN3, MDS2, MECR, MEF2D, MEGF6, METTL11B, METTL13, MFAP2, MFN2, MFSD4, MGST3, MIA3, MIB2, MIIP, MINOS1-NBL1, MKNK1, MLK4, MMACHC, MMEL1, MNDA, MPC2, MR1, MROH7, MROH9, MRPL37, MRPL9, MRPS15, MRTO4, MSH4, MSTO1, MTF1, MTF2, MTHFR, MTMR11, MTOR, MTR, MTX1, MUC1, MYBPHL, MYCL, MYOC, MYOM3, MYSM1, NADK, NASP, NAV1, NBPF3, NBPF4, NCF2, NCSTN, NDUFS2, NEGR1, NEK2, NEK7, NES, NEXN, NFASC, NFIA, NFYC, NID1, NIT1, NLRP3, NOC2L, NOL9, NOTCH2, NOTCH2NL, NPHP4, NPHS2, NPL, NR5A2, NRD1, NSL1, NSUN4, NTNG1, NTPCR, NTRK1, NUAK2, NUF2, NUP210L, NVL, OAZ3, OBSCN, ODF2L, OLFML2B, OMA1, OPRD1, OR10J1, OR10J4, OR10J5, OR10K2, OR10R2, OR10X1, OR10Z1, OR11L1, OR13G1, OR14A16, OR14A2, OR14C36, OR14I1, OR14K1, OR1C1, OR2AK2, OR2B11, OR2C3, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T7, OR2T8, OR6F1, OR6K3, OR6K6, OR6N1, OR6P1, OSCP1, OXCT2, PADI1, PADI2, PADI4, PALMD, PARP1, PAX7, PBXIP1, PCNXL2, PCSK9, PDE4B, PDE4DIP, PDIK1L, PDPN, PEAR1, PER3, PEX10, PEX14, PGLYRP3, PGLYRP4, PGM1, PHC2, PHGDH, PI4KB, PIFO, PIGC, PIGK, PIK3C2B, PIK3CD, PIK3R3, PIP5K1A, PKLR, PKN2, PKP1, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G4A, PLCH2, PLD5, PLEKHM2, PLEKHN1, PLOD1, PLXNA2, PM20D1, PMF1-BGLAP, PODN, POMGNT1, POU3F1, PPFIA4, PPM1J, PPOX, PPP1R15B, PPP2R5A, PRAMEF1, PRAMEF11, PRAMEF12, PRAMEF19, PRAMEF2, PRCC, PRDM16, PRDM2, PRG4, PRKAB2, PRKCZ, PRRC2C, PRSS38, PRUNE, PSEN2, PSMB4, PSMD4, PTBP2, PTCH2, PTCHD2, PTGER3, PTGFR, PTGFRN, PTPN14, PTPN22, PTPN7, PTPRF, PYCR2, QSOX1, RABGAP1L, RABGGTB, RAP1GAP, RASSF5, RBBP4, RC3H1, RCAN3, RCC2, RD3, RERE, RFX5, RGS16, RGSL1, RHBDL2, RHBG, RHD, RIMKLA, RIT1, RLF, RNASEL, RNF186, RNF223, RNPC3, RNPEP, ROR1, RORC, RP11-126K1.2, RP11-156E8.1, RPF1, RPS6KA1, RPTN, RRNAD1, RRP15, RSC1A1, RUNX3, RUSC1, RWDD3, RXFP4, RXRG, RYR2, S100A5, S100A7, S100A7A, S100A7L2, S100PBP, SAMD11, SCAMP3, SCCPDH, SCYL3, SDC3, SDCCAG8, SDF4, SDHB, SEC16B, SELL, SEMA4A, SEMA6C, SEPN1, SERINC2, SGIP1, SH2D1B, SH2D2A, SH2D5, SH3D21, SHE, SIPA1L2, SLAMF1, SLAMF8, SLAMF9, SLC16A1, SLC1A7, SLC22A15, SLC25A24, SLC26A9, SLC35E2, SLC35E2B, SLC35F3, SLC41A1, SLC44A3, SLC44A5, SLC45A1, SLC5A9, SLC6A17, SLC6A9, SLC9A1, SLC9C2, SLFNL1, SMAP2, SMG7, SMPDL3B, SMYD2, SMYD3, SNAP47, SNIP1, SNRNP40, SNX7, SOAT1, SORT1, SOX13, SPAG17, SPATA17, SPATA21, SPATA6, SPOCD1, SPRR1A, SPRR1B, SPRR3, SPRR4, SPRTN, SPTA1, SRGAP2, SRM, SRSF4, SSX2IP, ST3GAL3, STIL, STPG1, STX6, STXBP3, SUCO, SYDE2, SYNC, SYT11, SYT14, SYT2, SYT6, SYTL1, SZRD1, TACSTD2, TAF1A, TAF5L, TAL1, TARBP1, TAS1R1, TAS1R2, TAS1R3, TCEB3, TCHH, TCTEX1D4, TDRD10, TDRD5, TDRKH, TEKT2, TEX35, TEX38, TFB2M, TGFBR3, THAP3, THEM4, THEM5, THRAP3, TIE1, TIPRL, TLR5, TMCC2, TMCO4, TMED5, TMEM183A, TMEM201, TMEM206, TMEM61, TMEM81, TMEM82, TMEM9, TNFRSF14, TNFRSF8, TNFSF18, TNN, TNNT2, TNR, TOR1AIP1, TOR3A, TP73, TRAF3IP3, TRIM11, TRIM17, TRIM33, TRIM46, TRIM58, TRIM62, TRIM63, TRMT13, TRNP1, TSHB, TSPAN2, TTC13, TTC22, TTC24, TTC34, TTC39A, TTC4, TTF2, TYW3, UBIAD1, UBR4, UBXN11, UCK2, URB2, USH2A, USP21, USP24, USP48, UTS2, VANGL1, VANGL2, VAV3, VCAM1, VPS13D, VWA5B1, WDR64, WDR65, WDR78, WLS, WNT9A, WRAP73, XCL2, YIPF1, YY1AP1, ZBED6, ZBTB37, ZBTB40, ZBTB41, ZBTB48, ZBTB7B, ZBTB8A, ZC3H11A, ZC3H12A, ZCCHC11, ZFP69B, ZMPSTE24, ZMYM1, ZMYND12, ZNF124, ZNF326, ZNF436, ZNF593, ZNF669, ZNF670, ZNF672, ZNF683, ZNF687, ZNF695, ZNF697, ZSCAN20, ZSWIM5, ZYG11A,

Genes at Omim

ABCA4, ABCD3, ABL2, ACADM, ACTN2, ADAMTSL4, ADAR, ADCK3, ADCY10, AGL, AGRN, AGT, AHDC1, ALDH4A1, ALG6, ALPL, AMPD1, AMPD2, AP4B1, APCS, ASPM, ATF6, ATP13A2, B3GALNT2, C1QA, C8A, C8B, CACNA1S, CAMTA1, CASQ2, CENPF, CEP104, CFH, CFHR1, CFHR3, CHI3L1, CLCNKA, CLCNKB, CLDN19, COA6, COL11A1, COPA, CR1, CR2, CRB1, CSF3R, CTH, CTSK, DARC, DBT, DDOST, DDR2, DDX59, DHCR24, DISC1, DPYD, DSTYK, DVL1, ECE1, ECM1, EDARADD, ELAVL4, EMC1, EPHA2, EPHB2, ERMAP, F13B, F5, FAAH, FCGR2A, FCGR2B, FCGR2C, FCGR3B, FLG, FMN2, FOXD3, FUCA1, GABRD, GFI1, GJA8, GNAT2, GNPAT, GORAB, GPR88, GRHL3, H6PD, HFM1, HMCN1, HMGCL, HSPG2, IBA57, IGSF3, IL23R, IRF6, ISG15, KCND3, KCNH1, KCNQ4, KIF14, KIF1B, KISS1, LAMB3, LAMC2, LBR, LDLRAP1, LMNA, LOR, LRIG2, LYST, MASP2, MFN2, MMACHC, MR1, MTHFR, MTOR, MTR, MUC1, MYOC, NCF2, NCSTN, NDUFS2, NEK2, NEXN, NLRP3, NOTCH2, NPHP4, NTRK1, PADI4, PAX7, PCSK9, PER3, PEX10, PEX14, PGM1, PHGDH, PIK3CD, PKLR, PKP1, PLA2G2A, PLA2G4A, PLOD1, POMGNT1, PPOX, PPP1R15B, PRCC, PRDM16, PRG4, PSEN2, PTCH2, PTPN14, PTPN22, PTPRF, PYCR2, RD3, RERE, RFX5, RHD, RIT1, RNASEL, RORC, RYR2, SDC3, SDCCAG8, SDHB, SEMA4A, SEPN1, SLC16A1, SLC6A17, SLC9A1, SNIP1, SORT1, SPRTN, SPTA1, ST3GAL3, STIL, SYT14, SYT2, TACSTD2, TAL1, TLR5, TNNT2, TOR1AIP1, TP73, TSHB, UBIAD1, USH2A, VANGL1, VANGL2, ZMPSTE24, ZNF687,
ABCA4 Cone-rod dystrophy 3, 604116 (3)
Fundus flavimaculatus, 248200 (3)
Retinal dystrophy, early-onset severe, 248200 (3)
Retinitis pigmentosa 19, 601718 (3)
Stargardt disease 1, 248200 (3)
{Macular degeneration, age-related, 2}, 153800 (3)
ABCD3 ?Bile acid synthesis defect, congenital, 5, 616278 (3)
ABL2 Leukemia, acute myeloid, with eosinophilia (1)
ACADM Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3)
ACTN2 Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3)
Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (3)
ADAMTSL4 Ectopia lentis et pupillae, 225200 (3)
Ectopia lentis, isolated, autosomal recessive, 225100 (3)
ADAR Aicardi-Goutieres syndrome 6, 615010 (3)
Dyschromatosis symmetrica hereditaria, 127400 (3)
ADCK3 Coenzyme Q10 deficiency, primary, 4, 612016 (3)
ADCY10 {Hypercalciuria, absorptive, susceptibility to}, 143870 (3)
AGL Glycogen storage disease IIIa, 232400 (3)
Glycogen storage disease IIIb, 232400 (3)
AGRN Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)
AGT Renal tubular dysgenesis, 267430 (3)
{Hypertension, essential, susceptibility to}, 145500 (3)
{Preeclampsia, susceptibility to} (3)
AHDC1 Xia-Gibbs syndrome, 615829 (3)
ALDH4A1 Hyperprolinemia, type II, 239510 (3)
ALG6 Congenital disorder of glycosylation, type Ic, 603147 (3)
ALPL Hypophosphatasia, adult, 146300 (3)
Hypophosphatasia, childhood, 241510 (3)
Hypophosphatasia, infantile, 241500 (3)
Odontohypophosphatasia, 146300 (3)
AMPD1 Myopathy due to myoadenylate deaminase deficiency, 615511 (3)
AMPD2 ?Spastic paraplegia 63, 615686 (3)
Pontocerebellar hypoplasia, type 9, 615809 (3)
AP4B1 Spastic paraplegia 47, autosomal recessive, 614066 (3)
APCS {?Amyloidosis, secondary, susceptibility to} (1)
ASPM Microcephaly 5, primary, autosomal recessive, 608716 (3)
ATF6 Achromatopsia 7, 616517 (3)
ATP13A2 ?Ceroid lipofuscinosis, neuronal, 12, 606693 (3)
Kufor-Rakeb syndrome, 606693 (3)
B3GALNT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3)
C1QA C1q deficiency, 613652 (3)
C8A C8 deficiency, type I, 613790 (3)
C8B C8 deficiency, type II, 613789 (3)
CACNA1S Hypokalemic periodic paralysis, type 1, 170400 (3)
{Malignant hyperthermia susceptibility 5}, 601887 (3)
{Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3)
CAMTA1 Cerebellar ataxia, nonprogressive, with mental retardation, 614756 (3)
CASQ2 Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)
CENPF Stromme syndrome, 243605 (3)
CEP104 Joubert syndrome 25, 616781 (3)
CFH Basal laminar drusen, 126700 (3)
Complement factor H deficiency, 609814 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3)
{Macular degeneration, age-related, 4}, 610698 (3)
CFHR1 {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3)
{Macular degeneration, age-related, reduced risk of}, 603075 (3)
CFHR3 {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3)
{Macular degeneration, age-related, reduced risk of}, 603075 (3)
CHI3L1 {Asthma-related traits, susceptibility to, 7}, 611960 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
CLCNKA Bartter syndrome, type 4b, digenic, 613090 (3)
CLCNKB Bartter syndrome, type 3, 607364 (3)
Bartter syndrome, type 4b, digenic, 613090 (3)
CLDN19 Hypomagnesemia 5, renal, with ocular involvement, 248190 (3)
COA6 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 (3)
COL11A1 Fibrochondrogenesis 1, 228520 (3)
Marshall syndrome, 154780 (3)
Stickler syndrome, type II, 604841 (3)
{Lumbar disc herniation, susceptibility to}, 603932 (3)
COPA {Autoimmune interstitial lung, joint, and kidney disease}, 616414 (3)
CR1 CR1 deficiency (1)
[Blood group, Knops system], 607486 (3)
{?SLE susceptibility} (1)
{Malaria, severe, resistance to}, 611162 (3)
CR2 Immunodeficiency, common variable, 7, 614699 (3)
{Systemic lupus erythematosus, susceptibility to, 9}, 610927 (3)
CRB1 Leber congenital amaurosis 8, 613835 (3)
Pigmented paravenous chorioretinal atrophy, 172870 (3)
Retinitis pigmentosa-12, autosomal recessive, 600105 (3)
CSF3R Neutropenia, severe congenital, 7, autosomal recessive, 617014 (3)
CTH Cystathioninuria, 219500 (3)
Homocysteine, total plasma, elevated (3)
CTSK Pycnodysostosis, 265800 (3)
DARC [Blood group, Duffy system], 110700 (3)
[White blood cell count QTL], 611862 (3)
{Malaria, vivax, protection against}, 611162 (3)
DBT Maple syrup urine disease, type II, 248600 (3)
DDOST ?Congenital disorder of glycosylation, type Ir, 614507 (3)
DDR2 Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3)
DDX59 Orofaciodigital syndrome V, 174300 (3)
DHCR24 Desmosterolosis, 602398 (3)
DISC1 {Schizoaffective disorder, susceptibility to}, 181500 (3)
{Schizophrenia, susceptibility to}, 604906 (3)
DPYD 5-fluorouracil toxicity, 274270 (3)
Dihydropyrimidine dehydrogenase deficiency, 274270 (3)
DSTYK {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805 (3)
DVL1 Robinow syndrome, autosomal dominant 2, 616331 (3)
ECE1 Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3)
{Hypertension, essential, susceptibility to}, 145500 (3)
ECM1 Urbach-Wiethe disease, 247100 (3)
EDARADD Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 (3)
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941 (3)
ELAVL4 Neuropathy, paraneoplastic sensory (1)
EMC1 Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 (3)
EPHA2 Cataract 6, multiple types, 116600 (3)
EPHB2 {Prostate cancer/brain cancer susceptibility, somatic}, 603688 (3)
ERMAP [Blood group, Radin], 111620 (3)
[Blood group, Scianna system], 111750 (3)
F13B Factor XIIIB deficiency, 613235 (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)
FAAH {Drug addiction, susceptibility to}, 606581 (3)
FCGR2A {Lupus nephritis, susceptibility to}, 152700 (3)
{Malaria, severe, susceptibility to}, 611162 (3)
{Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3)
FCGR2B {Malaria, resistance to}, 611162 (3)
{Systemic lupus erythematosus, susceptibility to}, 152700 (3)
FCGR2C Thrombocytopenic purpura, autoimmune, 188030 (1)
FCGR3B Neutropenia, alloimmune neonatal (3)
FLG Ichthyosis vulgaris, 146700 (3)
{Dermatitis, atopic, susceptibility to, 2}, 605803 (3)
FMN2 Mental retardation, autosomal recessive 47, 616193 (3)
FOXD3 {Autoimmune disease, susceptibility to, 1}, 607836 (3)
FUCA1 Fucosidosis, 230000 (3)
GABRD {Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to}, 613060 (3)
{Epilepsy, idiopathic generalized, 10}, 613060 (3)
{Epilepsy, juvenile myoclonic, susceptibility to}, 613060 (3)
GFI1 Neutropenia, nonimmune chronic idiopathic, of adults, 607847 (3)
Neutropenia, severe congenital 2, autosomal dominant, 613107 (3)
GJA8 Cataract 1, multiple types, 116200 (3)
GNAT2 Achromatopsia-4, 613856 (3)
GNPAT Rhizomelic chondrodysplasia punctata, type 2, 222765 (3)
GORAB Geroderma osteodysplasticum, 231070 (3)
GPR88 ?Chorea, childhood-onset, with psychomotor retardation, 616939 (3)
GRHL3 Van der Woude syndrome 2, 606713 (3)
H6PD Cortisone reductase deficiency 1, 604931 (3)
HFM1 Premature ovarian failure 9, 615724 (3)
HMCN1 {Macular degeneration, age-related, 1}, 603075 (3)
HMGCL HMG-CoA lyase deficiency, 246450 (3)
HSPG2 Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3)
Schwartz-Jampel syndrome, type 1, 255800 (3)
IBA57 ?Multiple mitochondrial dysfunctions syndrome 3, 615330 (3)
?Spastic paraplegia 74, autosomal recessive, 616451 (3)
IGSF3 ?Lacrimal duct defect, 149700 (3)
IL23R {Inflammatory bowel disease 17, protection against}, 612261 (3)
{Psoriasis, protection against}, 605606 (3)
IRF6 Popliteal pterygium syndrome 1, 119500 (3)
van der Woude syndrome, 119300 (3)
{Orofacial cleft 6}, 608864 (3)
ISG15 Immunodeficiency 38, 616126 (3)
KCND3 Brugada syndrome 9, 616399 (3)
Spinocerebellar ataxia 19, 607346 (3)
KCNH1 Temple-Baraitser syndrome, 611816 (3)
Zimmermann-Laband syndrome 1, 135500 (3)
KCNQ4 Deafness, autosomal dominant 2A, 600101 (3)
KIF14 ?Meckel syndrome 12, 616258 (3)
KIF1B ?Charcot-Marie-Tooth disease, type 2A1, 118210 (3)
Pheochromocytoma, 171300 (3)
{Neuroblastoma, susceptibility to, 1}, 256700 (3)
KISS1 ?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3)
LAMB3 Amelogenesis imperfecta, type IA, 104530 (3)
Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
LAMC2 Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
LBR ?Reynolds syndrome, 613471 (3)
Greenberg skeletal dysplasia, 215140 (3)
Pelger-Huet anomaly, 169400 (3)
LDLRAP1 Hypercholesterolemia, familial, autosomal recessive, 603813 (3)
LMNA Cardiomyopathy, dilated, 1A, 115200 (3)
Charcot-Marie-Tooth disease, type 2B1, 605588 (3)
Emery-Dreifuss muscular dystrophy 2, AD, 181350 (3)
Emery-Dreifuss muscular dystrophy 3, AR, 616516 (3)
Heart-hand syndrome, Slovenian type, 610140 (3)
Hutchinson-Gilford progeria, 176670 (3)
Lipodystrophy, familial partial, type 2, 151660 (3)
Malouf syndrome, 212112 (3)
Mandibuloacral dysplasia, 248370 (3)
Muscular dystrophy, congenital, 613205 (3)
Muscular dystrophy, limb-girdle, type 1B, 159001 (3)
Restrictive dermopathy, lethal, 275210 (3)
LOR Vohwinkel syndrome with ichthyosis, 604117 (3)
LRIG2 Urofacial syndrome 2, 615112 (3)
LYST Chediak-Higashi syndrome, 214500 (3)
MASP2 MASP2 deficiency, 613791 (3)
MFN2 Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260 (3)
Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3)
Hereditary motor and sensory neuropathy VIA, 601152 (3)
MMACHC Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)
MR1 Paroxysmal nonkinesigenic dyskinesia, 118800 (3)
MTHFR Homocystinuria due to MTHFR deficiency, 236250 (3)
{Neural tube defects, susceptibility to}, 601634 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
{Thromboembolism, susceptibility to}, 188050 (3)
{Vascular disease, susceptibility to} (3)
MTOR Smith-Kingsmore syndrome, 616638 (3)
MTR Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MUC1 Medullary cystic kidney disease 1, 174000 (3)
MYOC Glaucoma 1A, primary open angle, 137750 (3)
NCF2 Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
NCSTN Acne inversa, familial, 1, 142690 (3)
NDUFS2 Mitochondrial complex I deficiency, 252010 (3)
NEK2 ?Retinitis pigmentosa 67, 615565 (3)
NEXN Cardiomyopathy, dilated, 1CC, 613122 (3)
Cardiomyopathy, hypertrophic, 20, 613876 (3)
NLRP3 CINCA syndrome, 607115 (3)
Familial cold-induced inflammatory syndrome 1, 120100 (3)
Muckle-Wells syndrome, 191900 (3)
NOTCH2 Alagille syndrome 2, 610205 (3)
Hajdu-Cheney syndrome, 102500 (3)
NPHP4 Nephronophthisis 4, 606966 (3)
Senior-Loken syndrome 4, 606996 (3)
NTRK1 Insensitivity to pain, congenital, with anhidrosis, 256800 (3)
Medullary thyroid carcinoma, familial, 155240 (3)
PADI4 {Rheumatoid arthritis, susceptibility to}, 180300 (3)
PAX7 Rhabdomyosarcoma 2, alveolar, 268220 (3)
PCSK9 Hypercholesterolemia, familial, 3, 603776 (3)
{Low density lipoprotein cholesterol level QTL 1}, 603776 (3)
PER3 ?Advanced sleep phase syndrome, familial, 3, 616882 (3)
PEX10 Peroxisome biogenesis disorder 6A (Zellweger), 614870 (3)
Peroxisome biogenesis disorder 6B, 614871 (3)
PEX14 Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3)
PGM1 Congenital disorder of glycosylation, type It, 614921 (3)
PHGDH Neu-Laxova syndrome 1, 256520 (3)
Phosphoglycerate dehydrogenase deficiency, 601815 (3)
PIK3CD Immunodeficiency 14, 615513 (3)
PKLR Adenosine triphosphate, elevated, of erythrocytes, 102900 (3)
Pyruvate kinase deficiency, 266200 (3)
PKP1 Ectodermal dysplasia/skin fragility syndrome, 604536 (3)
PLA2G2A {Colorectal cancer}, 114500 (3)
PLA2G4A Phospholipase A2, group IV A, deficiency of (3)
PLOD1 Ehlers-Danlos syndrome, type VI, 225400 (3)
POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3)
Retinitis pigmentosa 76, 617123 (3)
PPOX Porphyria variegata, 176200 (3)
PPP1R15B Microcephaly, short stature, and impaired glucose metabolism 2, 616817 (3)
PRCC Renal cell carcinoma, papillary, 605074 (3)
PRDM16 Cardiomyopathy, dilated, 1LL, 615373 (3)
Left ventricular noncompaction 8, 615373 (3)
PRG4 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)
PSEN2 Alzheimer disease-4, 606889 (3)
Cardiomyopathy, dilated, 1V, 613697 (3)
PTCH2 Basal cell carcinoma, somatic, 605462 (3)
Basal cell nevus syndrome, 109400 (3)
Medulloblastoma, 155255 (3)
PTPN14 Choanal atresia and lymphedema, 613611 (3)
PTPN22 {Diabetes, type 1, susceptibility to}, 222100 (3)
{Rheumatoid arthritis, susceptibility to}, 180300 (3)
{Systemic lupus erythematosus susceptibility to}, 152700 (3)
PTPRF ?Breasts and/or nipples, aplasia or hypoplasia of, 2, 616001 (3)
PYCR2 Leukodystrophy, hypomyelinating, 10, 616420 (3)
RD3 Leber congenital amaurosis 12, 610612 (3)
RERE Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, 616975 (3)
RFX5 Bare lymphocyte syndrome, type II, complementation group C, 209920 (3)
Bare lymphocyte syndrome, type II, complementation group E, 209920 (3)
RHD [Rh-negative blood type] (3)
RIT1 Noonan syndrome 8, 615355 (3)
RNASEL Prostate cancer 1, 601518 (3)
RORC Immunodeficiency 42, 616622 (3)
RYR2 Arrhythmogenic right ventricular dysplasia 2, 600996 (3)
Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3)
SDC3 {Obesity, association with}, 601665 (3)
SDCCAG8 Bardet-Biedl syndrome 16, 615993 (3)
Senior-Loken syndrome 7, 613615 (3)
SDHB Cowden syndrome 2, 612359 (3)
Gastrointestinal stromal tumor, 606764 (3)
Paraganglioma and gastric stromal sarcoma, 606864 (3)
Paragangliomas 4, 115310 (3)
Pheochromocytoma, 171300 (3)
SEMA4A Cone-rod dystrophy 10, 610283 (3)
Retinitis pigmentosa 35, 610282 (3)
SEPN1 Muscular dystrophy, rigid spine, 1, 602771 (3)
Myopathy, congenital, with fiber-type disproportion, 255310 (3)
SLC16A1 Erythrocyte lactate transporter defect, 245340 (3)
Hyperinsulinemic hypoglycemia, familial, 7, 610021 (3)
Monocarboxylate transporter 1 deficiency, 616095 (3)
SLC6A17 Mental retardation, autosomal recessive 48, 616269 (3)
SLC9A1 ?Lichtenstein-Knorr syndrome, 616291 (3)
SNIP1 Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 (3)
SORT1 [Low density lipoprotein cholesterol level QTL6], 613589 (3)
SPRTN Ruijs-Aalfs syndrome, 616200 (3)
SPTA1 Elliptocytosis-2, 130600 (3)
Pyropoikilocytosis, 266140 (3)
Spherocytosis, type 3, 270970 (3)
ST3GAL3 Epileptic encephalopathy, early infantile, 15, 615006 (3)
Mental retardation, autosomal recessive 12, 611090 (3)
STIL Microcephaly 7, primary, autosomal recessive, 612703 (3)
SYT14 Spinocerebellar ataxia, autosomal recessive 11, 614229 (3)
SYT2 Myasthenic syndrome, congenital, 7, presynaptic, 616040 (3)
TACSTD2 Corneal dystrophy, gelatinous drop-like, 204870 (3)
TAL1 Leukemia, T-cell acute lymphocytic, somatic, 613065 (3)
TLR5 {Legionaire disease, susceptibility to}, 608556 (3)
{Melioidosis, susceptibility to}, 615557 (3)
{Systemic lupus erythematosus, resistance to}, 601744 (3)
{Systemic lupus erythematosus, susceptibility to, 1}, 601744 (3)
TNNT2 Cardiomyopathy, dilated, 1D, 601494 (3)
Cardiomyopathy, familial restrictive, 3, 612422 (3)
Cardiomyopathy, hypertrophic, 2, 115195 (3)
Left ventricular noncompaction 6, 601494 (3)
TOR1AIP1 ?Muscular dystrophy, limb-girdle, type 2Y, 617072 (3)
TP73 ?Neuroblastoma (1)
TSHB Hypothryoidism, congenital, nongoitrous 4, 275100 (3)
UBIAD1 Corneal dystrophy, Schnyder type, 121800 (3)
USH2A Retinitis pigmentosa 39, 613809 (3)
Usher syndrome, type 2A, 276901 (3)
VANGL1 Caudal regression syndrome, 600145 (3)
{Neural tube defects, susceptibility to}, 182940 (3)
VANGL2 Neural tube defects, 182940 (3)
ZMPSTE24 Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3)
Restrictive dermopathy, lethal, 275210 (3)
ZNF687 Paget disease of bone 6, 616833 (3)

Genes at Clinical Genomics Database

ABCA4, ABCD3, ACADM, ACTN2, ADAMTSL4, ADAR, ADCK3, AGL, AGRN, AGT, AHDC1, ALDH4A1, ALG6, ALPL, AMPD1, AMPD2, AP4B1, ASPM, ATF6, ATP13A2, B3GALNT2, C1QA, C8A, C8B, CACNA1S, CAMTA1, CASQ2, CENPF, CFH, CFHR1, CFHR3, CFHR4, CLCNKA, CLCNKB, CLDN19, COA6, COL11A1, COPA, CR1, CR2, CRB1, CSF3R, CTH, CTSK, DBT, DDOST, DDR2, DDX59, DHCR24, DPYD, DSTYK, DVL1, ECE1, ECM1, EDARADD, EMC1, EPHA2, ERMAP, F13B, F5, FLG, FMN2, FUCA1, GFI1, GJA8, GNAT2, GNPAT, GORAB, GPR88, GRHL3, H6PD, HFM1, HMCN1, HMGCL, HSPG2, IBA57, IGSF3, IRF6, ISG15, KCND3, KCNH1, KCNQ4, KIF14, KIF1B, KISS1, LAMB3, LAMC2, LBR, LDLRAP1, LMNA, LOR, LRIG2, LYST, MAP3K6, MASP2, MFN2, MMACHC, MR1, MTHFR, MTOR, MTR, MUC1, MYOC, NCF2, NCSTN, NDUFS2, NEK2, NEXN, NLRP3, NOTCH2, NPHP4, NPHS2, NTRK1, PCSK9, PER3, PEX10, PEX14, PGM1, PHGDH, PIK3CD, PKLR, PKP1, PLA2G4A, PLOD1, POMGNT1, PPOX, PPP1R15B, PRDM16, PRG4, PSEN2, PTCH2, PTPN14, PTPRF, PYCR2, RD3, RFX5, RIT1, RNASEL, RORC, RYR2, SDCCAG8, SDHB, SEMA4A, SEPN1, SLC16A1, SLC41A1, SLC6A17, SLC9A1, SNIP1, SPTA1, ST3GAL3, STIL, SYT14, SYT2, TACSTD2, TNNT2, TSHB, UBIAD1, USH2A, VANGL1, VANGL2, ZMPSTE24, ZNF687,
ABCA4 Fundus flavimaculatus
Retinal dystrophy, early-onset severe
Stargardt disease 1
Retinitis pigmentosa 19
Cone-rod dystrophy 3
ABCD3 Bile acid synthesis defect, congenital, 5
ACADM Acyl-CoA dehydrogenase, medium chain, deficiency of
ACTN2 Cardiomyopathy, hypertrophic 23, with or without left ventricular noncompaction
Cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction
ADAMTSL4 Ectopia lentis, isolated, autosomal recessive
ADAR Aicardi-Goutieres syndrome 6
Dyschromatosis symmetrica hereditaria
ADCK3 Spinocerebellar ataxia 9
Progressive cerebellar ataxia and atrophy
Coenzyme Q10 deficiency
AGL Glycogen storage disease III
AGRN Myasthenic syndrome, congenital 8
AGT Renal tubular dysgenesis
AHDC1 Mental retardation, autosomal dominant 25 (Xia-Gibbs syndrome)
ALDH4A1 Hyperprolinemia, type II
ALG6 Congenital disorder of glycosylation, type Ic
ALPL Odontohypophosphatasia
Hypophosphatasia, infantile
AMPD1 Myoadenylate deaminase deficiency
AMPD2 Spastic paraplegia 63
Pontocerebellar hypoplasia type 9
AP4B1 Spastic paraplegia 47, autosomal recessive
ASPM Microcephaly, primary autosomal recessive, 5
ATF6 Achromatopsia 7
ATP13A2 Ceroid lipofuscinosis, neuronal, 12
Parkinson disease 9 (Kufor-Rakeb syndrome)
B3GALNT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11
C1QA C1q deficiency
C8A Complement component 8 deficiency, type I
C8B Complement component 8 deficiency, type II
CACNA1S Hypokalemic periodic paralysis, type 1
Thyrotoxic period paralysis, susceptibility 1
Malignant hyperthermia susceptibility 5
CAMTA1 Cerebellar ataxia, nonprogressive, with mental retardation
CASQ2 Ventricular tachycardia, catecholaminergic, polymorphic, 2
CENPF Ciliary dyskinesia, primary 31 (Stromme syndrome)
CFH Complement factor H deficiency
Hemolytic uremic syndrome, atypical
CFHR1 Hemolytic-uremic syndrome, atypical, susceptibility to
CFHR3 Hemolytic-uremic syndrome, atypical, susceptibility to
CFHR4 Hemolytic-uremic syndrome, atypical, susceptibility to
CLCNKA Bartter syndrome, type 4, digenic
CLCNKB Bartter syndrome, type 4, digenic
Bartter syndrome, type 3
CLDN19 Hypomagnesemia 5, renal, with ocular involvement
COA6 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
COL11A1 Marshall syndrome
Fibrochondrogenesis
Stickler syndrome, type II
COPA Autoimmune interstitial lung, joint, and kidney disease
CR1 Blood group, Knops system
CR2 Common variable immune deficiency, 7
CRB1 Pigmented paravenous chorioretinal atrophy
Retinitis pigmentosa 12, autosomal recessive
Leber congenital amaurosis 8
CSF3R Neutrophilia, hereditary
CTH Cystathioninuria
CTSK Pycnodysostosis
DBT Maple syrup urine disease, type II
DDOST Congenital disorder of glycosylation, type Ir
DDR2 Spondylometaepiphyseal dysplasia, short limb-hand type
DDX59 Orofaciodigital syndrome V
DHCR24 Desmosterolosis
DPYD 5-fluorouracil toxicity
DSTYK Congenital anomalies of the kidney and urinary tract 1
DVL1 Robinow syndrome, autosomal dominant 2
ECE1 Hirschsprung disease, cardiac defects, and autonomic dysfunction
ECM1 Lipoid proteinosis
EDARADD Ectodermal dysplasia, hypohidrotic, autosomal recessive
Ectodermal dysplasia, hypohidrotic, autosomal dominant
Ectodermal dysplasia, anhidrotic, autosomal dominant
Ectodermal dysplasia, anhidrotic, autosomal recessive
EMC1 Cerebellar atrophy, visual impairment, and psychomotor retardation
EPHA2 Cataract 6, multiple types
ERMAP Blood group, Radin
Blood group, Scianna system
F13B Factor XIIIB deficiency
F5 Factor V deficiency
Thrombophilia due to activated protein C resistance
FLG Icthyosis vulgaris
FMN2 Mental retardation, autosomal recessive, 47
FUCA1 Fucosidosis
GFI1 Neutropenia, nonimmune chronic idiopathic, of adults
Neutropenia, severe congenital, 2 autosomal dominant
GJA8 Cataract 1, multiple types
GNAT2 Achromatopsia 4
GNPAT Rhizomelic chondrodysplasia punctata, rhizomelic, type 2
GORAB Geroderma osteodysplasticum
GPR88 Chorea, childhood-onset, with psychomotor retardation
GRHL3 van der Woude syndrome 2
H6PD Cortisone reductase deficiency
HFM1 Premature ovarian failure 9
HMCN1 Macular degeneration, age-related, 1
HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
HSPG2 Schwartz-Jampel syndrome, type 1
IBA57 Spastic paraplegia 74, autosomal recessive
Multiple mitochondrial dysfunctions syndrome 3
IGSF3 Lacrimal duct defect
IRF6 Orofacial cleft 6
van der Woude syndrome 1
Popliteal pterygium syndrome
ISG15 Immunodeficiency 38, with basal ganglia calcification
KCND3 Brugada syndrome 9
KCNH1 Zimmermann-Laband syndrome 1
Temple-Baraitser syndrome
KCNQ4 Deafness, autosomal dominant 2A
KIF14 Meckel syndrome 12
KIF1B Pheochromocytoma
Neuroblastoma, susceptibility to
KISS1 Hypogonadotropic hypogonadism 13 with or without anosmia
LAMB3 Epidermolysis bullosa, junctional, non-Herlitz type
Epidermolysis bullosa, junctional, Herlitz type
Amelogenesis imperfecta, type IA
LAMC2 Epidermolysis bullosa, junctional, non-Herlitz type
Epidermolysis bullosa, junctional, Herlitz type
LBR Greenberg/HEM skeletal dysplasia
Pelger-Huet anomaly
Reynolds syndrome
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
LDLRAP1 Hypercholesterolemia, familial, autosomal recessive
LMNA Lipodystrophy, familial partial, 2 (Dunnigan type)
Malouf syndrome
Limb-girdle muscular dystrophy type 1B
Muscular dystrophy, congenital, LMNA-related
Emery-Dreiffus muscular dystrophy 3, autosomal recessive
Emery-Dreiffus muscular dystrophy, autosomal dominant
Heart-hand syndrome, Slovenian type
Cardiomyopathy, dilated, 1A
LOR Vohwinkel syndrome, variant form
LRIG2 Urofacial syndrome 2
LYST Chediak-Higashi syndrome
MAP3K6 Familial gastric cancer
MASP2 MASP2 deficiency
MFN2 Hereditary motor and sensory neuropathy VIA
Charcot-Marie-Tooth disease, type 2A2
MMACHC Methylmalonic aciduria and homocystinuria, cblC type
MR1 Paroxysmal nonkinesigenic dyskinesia
MTHFR Homocystinuria due to MTHFR deficiency
MTOR Smith-Kingsmore syndrome
MTR Methylmalonic acidemia, cblG type
MUC1 Medullary cystic kidney disease 1
MYOC Glaucoma, primary open angle
NCF2 Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type II
NCSTN Acne inversa, familial 1
NDUFS2 Mitochondrial complex I deficiency
NEK2 Retinitis pigmentosa 67
NEXN Cardiomyopathy, dilated, 1CC
Cardiomyopathy, familial hypertrophic, 20
NLRP3 Muckle-Wells syndrome
Neonatal Onset Multisystem Inflammatory Disease (NOMID)
Chronic Infantile Neurologic Cutaneous Articular (CINCA) syndrome
NOTCH2 Alagille syndrome 2
NPHP4 Senior-Loken syndrome 4
Nephronophthisis 4
NPHS2 Nephrotic syndrome, type 2
NTRK1 Insensitivity to pain, congenital, with anhidrosis
PCSK9 Hypercholesterolemia, familial, 3
PER3 Advanced sleep phase syndrome, familial, 3
PEX10 Ataxia, autosomal recessive
Zellweger syndrome
Adrenoleukodystrophy, neonatal
Peroxisome biogenesis factor disorder 10
Peroxisome biogenesis disorder 6B
PEX14 Zellweger syndrome
Peroxisome biogenesis factor disorder 14
PGM1 Congenital disorder of glycosylation, type It
PHGDH Phosphoglycerate dehydrogenase deficiency
PIK3CD Immunodeficiency 14
PKLR Pyruvate kinase deficiency
PKP1 Ectodermal dysplasia/skin fragility syndrome
PLA2G4A Phospholipase A2, group IV A, deficiency of
PLOD1 Ehlers-Danlos syndrome type VI
POMGNT1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
PPOX Porphyria variegata
PPP1R15B Microcephaly, short stature, and impaired glucose metabolism 2
PRDM16 Left ventricular noncompaction 8
Cardiomyopathy, dilated, ILL
PRG4 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
PSEN2 Peripartum/pregnancy-associated cardiomyopathy
Cardiomyopathy, dilated, 1V
PTCH2 Basal cell nevus syndrome
PTPN14 Choanal atresia and lymphedema
PTPRF Breasts and/or nipples, aplasia or hypoplasia of, 2
PYCR2 Leukodystrophy, hypomyelinating 10
RD3 Leber congenital amaurosis 12
RFX5 Bare lymphocyte syndrome, type II
RIT1 Noonan syndrome 8
RNASEL Prostate cancer, hereditary, 1
RORC Immunodeficiency 42
RYR2 Arrhythmogenic right ventricular dysplasia 2
Ventricular tachycardia, catecholaminergic polymorphic, 1
SDCCAG8 Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
SDHB Paragangliomas 4
Pheochromocytoma
Gastrointestinal stromal tumor
Paraganglioma and gastric stromal sarcoma
Cowden-like syndrome
SEMA4A Retinitis pigmentosa 35
Cone-rod dystrophy 10
SEPN1 Myopathy, congenital, with fiber-type disproportion
Muscular dystrophy, rigid spine, 1
SLC16A1 Monocarboxylate transporter 1 deficiency (AR)
Erythrocyte lactate transporter defect
Hyperinsulinemic hypoglycemia, familial, 7
SLC41A1 Nephronophthisis-like ciliopathy
SLC6A17 Mental retardation, autosomal recessive 48
SLC9A1 Spinocerebellar ataxia, autosomal recessive 19 (Lichtenstein-Knorr syndrome)
SNIP1 Psychomotor retardation, epilepsy, and craniofacial dysmorphism
SPTA1 Ellipsocytosis 2
Pyropoikilocytosis , hereditary
Spherocytosis, type 3
ST3GAL3 Epileptic encephalopathy, early infantile, 15
Mental retardation, autosomal recessive 12
STIL Microcephaly, primary autosomal recessive, 7
SYT14 Spinocerebellar ataxia, autosomal recessive 11
SYT2 Myasthenic syndrome, congenital 7
TACSTD2 Corneal dystrophy, gelatinous drop-like
TNNT2 Cardiomyopathy, familial hypertrophic, 2
Left ventricular noncompaction 6
Cardiomyopathy, dilated, 1D
Cardiomyopathy, familial restrictive, 3
TSHB Hypothyroidism, congenital, nongoitrous, 4
UBIAD1 Corneal dystrophy, crystalline, of Schnyder
USH2A Usher syndrome, type 2A
VANGL1 Neural tube defects
Caudal regression syndrome
VANGL2 Neural tube defects
ZMPSTE24 Restrictive dermopathy, lethal
Mandibuloacral dysplasia with type B lipodystrophy
ZNF687 Paget disease of bone 6

Genes at HGMD

Summary

Number of Variants: 12416
Number of Genes: 964

Export to: CSV

AADACL3

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 mm170241ct 1 rs3010877
dbSNP
12779618 2059.77 T C . 1/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84804 0.84800 0.14252 1.00 0.00 None None None None None None None
View mm170241ct 1 rs3010876
dbSNP
12779560 2577.77 T C . 1/1 82 SYNONYMOUS_CODING LOW SILENT 0.84944 0.84940 0.14324 None None None None None None None
View mm170241ct 1 rs7513079
dbSNP
12785494 4058.77 G T . 1/1 120 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68231 0.68230 0.33289 0.26 1.00 None None None None None None None
View mm170241ct 1 rs3000859
dbSNP
12776344 1276.77 A T . 1/1 38 START_GAINED LOW 0.65655 0.65650 0.27373 1.00 0.00 None None None None None None None

ABCA4

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 mm170241ct 1 rs4147831
dbSNP
94544233 1263.77 G A . 0/1 130 SYNONYMOUS_CODING LOW SILENT 0.11462 0.11460 0.09457 None None None None None None None
View mm170241ct 1 rs1801555
dbSNP
94466659 266.77 A G . 0/1 12 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.30112 0.30110 0.29886 None None None None None None None
View mm170241ct 1 rs1801359
dbSNP
94467447 883.77 G A . 0/1 59 SYNONYMOUS_CODING LOW SILENT 0.13399 0.13400 0.14601 None None None None None None None
View mm170241ct 1 rs1762114
dbSNP
94471075 1766.77 A G . 0/1 149 SYNONYMOUS_CODING LOW SILENT 0.76997 0.77000 0.22428 None None None None None None None
View mm170241ct 1 rs4847281
dbSNP
94578548 3684.77 T C . 1/1 113 SYNONYMOUS_CODING LOW SILENT 0.98702 0.98700 0.01230 None None None None None None None
View mm170241ct 1 rs3112831
dbSNP
94544234 2222.77 T C . 0/1 130 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22085 0.22080 0.26065 0.63 0.00 None None None None None None None

ABCD3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs16946
dbSNP
94930345 2840.77 G A . 0/1 210 SYNONYMOUS_CODING LOW SILENT 0.27995 0.28000 0.37221 None None None None None None None

ABL2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs375374944
dbSNP
179076895 425.77 T C . 0/1 42 SYNONYMOUS_CODING LOW SILENT 0.00008 None None None None None None None

AC004824.2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs1635587
dbSNP
17664280 12.77 T C LowQual 1/1 1 SYNONYMOUS_CODING LOW SILENT 0.60164 0.60160 None None None None None None None
View mm170241ct 1 rs1748026
dbSNP
17664235 11.83 T C LowQual 1/1 1 SYNONYMOUS_CODING LOW SILENT 0.60184 0.60180 None None None None None None None

AC092811.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs3766928
dbSNP
225601647 2908.77 C T . 1/1 92 SYNONYMOUS_CODING LOW SILENT 0.58087 0.58090 None None None None None None None

AC096644.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs12402904
dbSNP
220603324 1155.77 A G . 0/1 67 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16693 0.16690 0.00 None None None None None None None
View mm170241ct 1 rs1361256
dbSNP
220607685 4395.77 G A . 1/1 130 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.81010 0.81010 None None None None None None None
View mm170241ct 1 rs10553491,rs67066512
dbSNP
220603310 2247.73 TGTGA T . 1/1 45 FRAME_SHIFT HIGH None None None None None None None

ACADM

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs1146593
dbSNP
76234886 104.77 A G . 0/1 14 None None None 0.88459 0.88460 0.84 0.00 None None None None None None None

ACBD3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs2306120
dbSNP
226352498 2384.77 T G . 0/1 163 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.53115 0.53120 0.40105 0.02 0.22 None None None None None None None

ACP6

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs6593795
dbSNP
147121977 440.77 C T . 1/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98443 0.98440 0.01453 0.13 0.15 None None None None None None None

ACTL8

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs2296035
dbSNP
18149566 1151.77 C A . 0/1 92 SYNONYMOUS_CODING LOW SILENT 0.48283 0.48280 0.42196 None None None None None None None
View mm170241ct 1 rs478698
dbSNP
18152582 749.77 C T . 0/1 44 SYNONYMOUS_CODING LOW SILENT 0.12540 0.12540 0.14047 None None None None None None None

ACTN2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs1341863
dbSNP
236883421 3925.77 C T . 1/1 116 SYNONYMOUS_CODING LOW SILENT 0.92073 0.92070 0.06228 None None None None None None None
View mm170241ct 1 . 236918324 405.77 T C . 0/1 26 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View mm170241ct 1 rs1341864
dbSNP
236882303 1096.77 T C . 1/1 33 SYNONYMOUS_CODING LOW SILENT 0.99261 0.99260 0.00777 None None None None None None None

ACTRT2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs3795263
dbSNP
2938989 1358.77 G A . 0/1 67 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12201 0.12200 0.17126 0.01 1.00 None None None None None None None

ADAM15

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs41264285
dbSNP
155033918 314.77 C T . 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13319 0.13320 0.20937 0.13 0.84 None None None None None None None
View mm170241ct 1 rs11264303
dbSNP
155030557 1774.77 A C . 0/1 121 SYNONYMOUS_CODING LOW SILENT 0.32448 0.32450 0.48931 None None None None None None None
View mm170241ct 1 rs6427128
dbSNP
155026942 1216.77 A C . 1/1 38 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.90196 0.90200 0.12771 0.51 0.00 None None None None None None None

ADAM30

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs41276636
dbSNP
120438827 660.77 T C . 0/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00339 0.00340 0.00769 0.11 0.06 None None None None None None None

ADAMTS4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs4233367
dbSNP
161163037 509.77 T C . 1/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.70687 0.70690 0.39720 1.00 0.00 None None None None None None None
View mm170241ct 1 rs41270041
dbSNP
161161284 777.77 G C . 0/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09964 0.09964 0.09465 0.23 0.00 None None None None None None None

ADAMTSL4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs6681639
dbSNP
150526406 301.77 C T . 0/1 31 SYNONYMOUS_CODING LOW SILENT 0.00100 0.00100 0.35545 None None None None None None None
View mm170241ct 1 rs10749658
dbSNP
150531170 1474.77 C T . 1/1 50 None None None 0.92153 0.92150 0.08404 None None None None None None None
View mm170241ct 1 rs10749657
dbSNP
150531050 1146.77 G A . 1/1 38 SYNONYMOUS_CODING LOW SILENT 0.87840 0.87840 0.15647 None None None None None None None
View mm170241ct 1 rs10888382
dbSNP
150531008 1005.77 T C . 1/1 31 SYNONYMOUS_CODING LOW SILENT 0.81450 0.81450 0.13248 None None None None None None None
View mm170241ct 1 rs41317515
dbSNP
150526044 2792.77 G C . 1/1 81 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.52836 0.52840 0.45295 0.61 0.00 None None None None None None None

ADAR

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs138927668
dbSNP
154562348 366.77 G A . 0/1 36 SYNONYMOUS_CODING LOW SILENT 0.00100 0.00100 0.00377 None None None None None None None
View mm170241ct 1 rs6426859
dbSNP
154600372 542.77 A G . 1/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98163 0.98160 0.01674 0.00 None None None None None None None
View mm170241ct 1 rs1466731
dbSNP
154574820 1951.77 T C . 1/1 64 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99621 0.99620 0.00431 0.28 0.00 None None None None None None None
View mm170241ct 1 rs2229857
dbSNP
154573967 3911.77 T C . 1/1 110 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62260 0.62260 0.39213 0.67 0.00 None None None None None None None
View mm170241ct 1 rs1802645
dbSNP
154575040 1108.77 C T . 1/1 37 SYNONYMOUS_CODING LOW SILENT 0.99701 0.99700 0.00285 None None None None None None None

ADCK3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs12593
dbSNP
227172290 678.77 C T . 0/1 76 SYNONYMOUS_CODING LOW SILENT 0.23862 0.23860 0.37367 None None None None None None None
View mm170241ct 1 rs3738725
dbSNP
227174210 1601.77 T C . 0/1 104 SYNONYMOUS_CODING LOW SILENT 0.31390 0.31390 0.44218 None None None None None None None

ADCY10

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs2071922
dbSNP
167825606 800.77 A G . 0/1 70 SYNONYMOUS_CODING LOW SILENT 0.20827 0.20830 0.10618 None None None None None None None
View mm170241ct 1 rs67878347
dbSNP
167839578 1809.77 G A . 0/1 135 SYNONYMOUS_CODING LOW SILENT 0.12560 0.12560 0.16116 None None None None None None None
View mm170241ct 1 rs203849
dbSNP
167849414 541.77 A G . 0/1 36 SYNONYMOUS_CODING LOW SILENT 0.49321 0.49320 0.46570 None None None None None None None
View mm170241ct 1 rs2071921
dbSNP
167825485 1387.77 T C . 0/1 157 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.50459 0.50460 0.42042 0.11 0.00 None None None None None None None
View mm170241ct 1 rs203795
dbSNP
167817639 998.77 A G . 0/1 72 SYNONYMOUS_CODING LOW SILENT 0.82209 0.82210 0.22674 None None None None None None None

ADORA1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs2228079
dbSNP
203098275 486.77 T G . 0/1 44 SYNONYMOUS_CODING LOW SILENT 0.23363 0.23360 0.26349 None None None None None None None

ADORA3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs2229155
dbSNP
112042632 6324.77 A G . 1/1 177 None None None 0.77356 0.77360 0.20998 None None None None None None None

AGL

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs3753494
dbSNP
100358103 6450.77 C T . 0/1 418 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11062 0.11060 0.13947 0.04 0.07 None None None None None None None
View mm170241ct 1 rs2230306
dbSNP
100336361 7069.77 C T . 1/1 214 SYNONYMOUS_CODING LOW SILENT 0.76258 0.76260 0.23289 None None None None None None None

AGMAT

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs11580170
dbSNP
15909744 189.77 C T . 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.27236 0.27240 0.34146 0.60 0.01 None None None None None None None
View mm170241ct 1 rs6429757
dbSNP
15909850 331.77 C G . 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63319 0.63320 0.34615 1.00 0.00 None None None None None None None

AGO4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs111333297
dbSNP
36274027 71.77 C T . 0/1 5 SYNONYMOUS_CODING LOW SILENT 0.00200 0.00200 None None None None None None None
View mm170241ct 1 rs4652895
dbSNP
36316571 1650.77 A C . 1/1 50 SYNONYMOUS_CODING LOW SILENT 0.49101 0.49100 0.34253 None None None None None None None

AGRN

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs10267
dbSNP
982994 2528.77 T C . 1/1 75 SYNONYMOUS_CODING LOW SILENT 0.83586 0.83590 0.20883 None None None None None None None
View mm170241ct 1 rs2465128
dbSNP
981931 776.77 A G . 1/1 29 SYNONYMOUS_CODING LOW SILENT 0.79772 0.79770 0.21978 None None None None None None None
View mm170241ct 1 . 983577 12.05 A C LowQual 0/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.03 None None None None None None None

AGT

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs7080
dbSNP
230841687 1448.77 T C . 1/1 42 SYNONYMOUS_CODING LOW SILENT 0.97264 0.97260 0.05913 None None None None None None None
View mm170241ct 1 rs4762
dbSNP
230845977 1161.77 G A . 0/1 63 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10164 0.10160 0.10926 0.01 1.00 None None None None None None None
View mm170241ct 1 rs699
dbSNP
230845794 1721.77 A G . 0/1 110 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.70507 0.70510 0.43834 1.00 0.00 None None None None None None None

AGTRAP

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs17875987
dbSNP
11804590 857.77 T G . 0/1 78 None None None 0.01897 0.01897 0.00 0.41 None None None None None None None

AHCTF1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs79472697,rs139763225
dbSNP
247013733 6792.77 T C . 0/1 556 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04433 0.04433 0.03806 1.00 0.05 None None None None None None None
View mm170241ct 1 rs41308156
dbSNP
247013203 2726.77 G A . 0/1 251 SYNONYMOUS_CODING LOW SILENT 0.04413 0.04413 0.04308 None None None None None None None
View mm170241ct 1 rs41308162
dbSNP
247021085 793.77 G C . 0/1 63 SYNONYMOUS_CODING LOW SILENT 0.18231 0.18230 0.19806 None None None None None None None
View mm170241ct 1 rs2642990
dbSNP
247048834 182.77 T C . 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68171 0.68170 0.36973 1.00 0.00 None None None None None None None

AHDC1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs4908364
dbSNP
27875824 949.77 C T . 1/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99800 0.99800 0.00508 1.00 0.00 None None None None None None None

AIDA

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs3811465
dbSNP
222886119 2084.77 A G . 1/1 58 START_GAINED LOW 0.75719 0.75720 0.06 0.00 None None None None None None None

AIM1L

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs10751735
dbSNP
26663362 453.77 C T . 0/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.45587 0.45590 0.43907 0.38 0.01 None None None None None None None
View mm170241ct 1 rs150982279
dbSNP
26670781 464.77 G A . 0/1 47 None None None 0.00719 0.00719 0.00 1.00 None None None None None None None
View mm170241ct 1 . 26655291 731.77 T A . 0/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View mm170241ct 1 rs11247919
dbSNP
26664968 712.77 C T . 0/1 44 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.28614 0.28610 0.42081 None None None None None None None
View mm170241ct 1 rs36024412
dbSNP
26670444 333.77 G T . 0/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20647 0.20650 0.00 1.00 None None None None None None None
View mm170241ct 1 rs34370465
dbSNP
26670609 538.77 C T . 0/1 60 None None None 0.20487 0.20490 0.16 0.06 None None None None None None None

AJAP1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs242056
dbSNP
4772717 1246.77 G A . 1/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36082 0.36080 0.47593 0.18 0.46 None None None None None None None

AK4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs4915685
dbSNP
65690461 190.77 G A . 0/1 18 SYNONYMOUS_CODING LOW SILENT 0.37001 0.37000 0.24450 None None None None None None None

AK5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs1167206
dbSNP
77763542 3862.77 G A . 1/1 119 SYNONYMOUS_CODING LOW SILENT 0.97883 0.97880 0.01607 None None None None None None None
View mm170241ct 1 rs79671213
dbSNP
78024345 2959.73 C CTAT . 1/1 57 CODON_INSERTION MODERATE 0.61961 0.61960 0.35982 None None None None None None None

AKNAD1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs1277207
dbSNP
109395105 8741.77 C T . 1/1 248 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86701 0.86700 0.16677 0.61 0.00 None None None None None None None
View mm170241ct 1 rs7551421
dbSNP
109369915 852.77 G T . 0/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.50320 0.50320 0.38504 1.00 0.00 None None None None None None None

AKR7A2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs859208
dbSNP
19634964 207.77 C G . 0/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10124 0.10120 0.09419 0.84 0.00 None None None None None None None
View mm170241ct 1 rs2231203
dbSNP
19633520 807.77 C T . 0/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03055 0.03055 0.03583 0.61 0.00 None None None None None None None

AKR7L

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs115063329
dbSNP
19597370 384.77 G A . 0/1 41 STOP_GAINED HIGH NONSENSE 0.00919 0.00919 0.01292 None None None None None None None

AL020996.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs984412
dbSNP
26146884 933.77 C G . 1/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79253 0.79250 0.00 None None None None None None None

AL590822.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs2480714
dbSNP
2144982 979.77 G T . 1/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.88319 0.88320 0.00 None None None None None None None

ALDH4A1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs2230705
dbSNP
19203997 712.77 C G . 1/1 22 SYNONYMOUS_CODING LOW SILENT 0.64157 0.64160 0.28846 None None None None None None None
View mm170241ct 1 rs2230708
dbSNP
19201956 1384.77 A G . 1/1 45 SYNONYMOUS_CODING LOW SILENT 0.73722 0.73720 0.29779 None None None None None None None
View mm170241ct 1 rs6695033
dbSNP
19201919 181.77 T C . 0/1 36 PROTEIN_INTERACTION_LOCUS HIGH 0.06550 0.06550 0.06758 0.03 0.69 None None None None None None None
View mm170241ct 1 rs2230707
dbSNP
19202896 129.77 G A . 0/1 16 SYNONYMOUS_CODING LOW SILENT 0.51597 0.51600 0.45471 None None None None None None None
View mm170241ct 1 rs61749348
dbSNP
19200988 565.77 G A . 0/1 36 SYNONYMOUS_CODING LOW SILENT 0.06510 0.06510 0.06543 None None None None None None None
View mm170241ct 1 rs7550938
dbSNP
19202917 109.77 T C . 0/1 20 SYNONYMOUS_CODING LOW SILENT 0.66094 0.66090 0.37698 None None None None None None None
View mm170241ct 1 rs2230706
dbSNP
19202926 119.77 T C . 0/1 19 SYNONYMOUS_CODING LOW SILENT 0.66014 0.66010 0.37865 None None None None None None None

ALDH9A1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs1143659
dbSNP
165652273 991.77 A G . 0/1 84 SYNONYMOUS_CODING LOW SILENT 0.74621 0.74620 0.34984 None None None None None None None

ALG6

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs4630153
dbSNP
63881552 1596.77 C T . 0/1 125 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.83047 0.83050 0.26300 0.32 0.00 None None None None None None None
View mm170241ct 1 rs35383149
dbSNP
63872032 715.77 T C . 0/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01338 0.01338 0.02922 0.03 0.02 None None None None None None None

ALPL

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs1780316
dbSNP
21889635 396.77 T C . 0/1 25 SYNONYMOUS_CODING LOW SILENT 0.92951 0.92950 0.07827 None None None None None None None

AMPD1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs17602729
dbSNP
115236057 2410.77 G A . 0/1 145 STOP_GAINED+SPLICE_SITE_REGION HIGH NONSENSE 0.03814 0.03814 0.09459 None None None None None None None