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Genes:
ABCC8, ABTB2, ACAD8, ACAT1, ACCSL, ACER3, ACP2, ACRV1, ACY3, ADAMTS15, ADAMTS8, ADRBK1, AGBL2, AHNAK, AIP, ALDH3B1, ALDH3B2, ALG9, ALKBH3, ALKBH8, ALX4, ANAPC15, ANGPTL5, ANKK1, ANKRD13D, ANKRD49, ANO1, ANO3, ANO5, ANO9, AP000679.2, AP000708.1, AP000769.1, AP001024.1, AP001024.2, AP003062.1, AP003068.23, AP2A2, AP5B1, APIP, APLNR, APOA4, APOC3, ARAP1, ARFGAP2, ARHGAP1, ARHGAP32, ARHGAP42, ARL2, ARNTL, ART1, ART5, ASCL3, ATG16L2, ATG2A, ATHL1, ATM, B3GNT6, B4GALNT4, BACE1, BARX2, BBOX1, BCO2, BDNF, BEST1, BRMS1, BRSK2, BTBD10, BTG4, BUD13, C11orf1, C11orf16, C11orf21, C11orf24, C11orf30, C11orf35, C11orf40, C11orf42, C11orf48, C11orf49, C11orf52, C11orf53, C11orf63, C11orf68, C11orf82, C11orf83, C11orf84, C11orf89, C11orf91, C11orf96, C2CD3, CABP2, CADM1, CALCA, CAPN1, CAPN5, CARD16, CARS, CASP1, CASP12, CASP4, CASP5, CAT, CATSPER1, CCDC15, CCDC179, CCDC67, CCDC73, CCDC81, CCDC82, CCDC84, CCDC86, CCDC87, CCDC88B, CCDC90B, CD151, CD248, CD3E, CD44, CD5, CD6, CD82, CDC42BPG, CDHR5, CDON, CEP164, CEP57, CFL1, CHEK1, CHID1, CHORDC1, CHRDL2, CHRM4, CHST1, CKAP5, CNGA4, CNTN5, COLCA2, CPSF7, CPT1A, CREB3L1, CRTAM, CRYAB, CSNK2A3, CST6, CTNND1, CTR9, CTSC, CTSW, CTTN, CUL5, CWC15, CWF19L2, CYP2R1, DAGLA, DAK, DCDC1, DCHS1, DCPS, DDB2, DDI1, DGKZ, DHCR7, DIXDC1, DKK3, DLAT, DNAJB13, DNHD1, DPAGT1, DRD2, DRD4, DSCAML1, DUSP8, DYNC2H1, EFCAB4A, EFEMP2, EHBP1L1, EHD1, EI24, EIF3F, EIF4G2, ENDOD1, EPS8L2, ESRRA, ETS1, EXPH5, EXT2, F2, FADS2, FADS3, FAM111A, FAM160A2, FAM180B, FAM76B, FAM86C1, FAT3, FDXACB1, FERMT3, FEZ1, FKBP2, FLI1, FLRT1, FOLH1, FRMD8, GAL3ST3, GALNT18, GAS2, GDPD4, GDPD5, GLB1L2, GLB1L3, GLYAT, GRAMD1B, GRIK4, GRM5, GUCY1A2, GYLTL1B, HBB, HBG1, HEPACAM, HEPHL1, HEPN1, HINFP, HMBS, HNRNPUL2, HPS5, HPX, HRAS, HRASLS5, HSD17B12, HSPB2, HTATIP2, HTR3A, HYOU1, IFITM1, IFITM2, IFITM3, IGHMBP2, IGSF22, IGSF9B, IL10RA, IL18, ILK, INCENP, INS, INSC, IPO7, IRF7, KCNJ11, KCNJ5, KCNK4, KCTD14, KDM2A, KDM4E, KIAA1377, KIAA1549L, KIAA1731, KIF18A, KIRREL3, KLC2, KLHL35, KRTAP5-1, KRTAP5-10, KRTAP5-2, KRTAP5-3, KRTAP5-5, LAYN, LDHA, LDHAL6A, LDHC, LGR4, LIPT2, LMO1, LMO2, LPXN, LRP4, LRP5, LRRC32, LRRC4C, LRRC55, LRRC56, LRTOMT, LSP1, LUZP2, MADD, MAML2, MAP3K11, MAP6, MCAM, MDK, MED17, MEN1, METTL15, MFRP, MICAL2, MICALCL, MMP1, MMP10, MMP20, MMP27, MMP3, MMP7, MMP8, MOB2, MOGAT2, MPEG1, MRGPRD, MRGPRE, MRGPRF, MRGPRX1, MRGPRX3, MRGPRX4, MRPL23, MRVI1, MS4A12, MS4A13, MS4A14, MS4A15, MS4A18, MS4A3, MS4A4A, MS4A5, MS4A6A, MS4A7, MTCH2, MTL5, MTMR2, MTNR1B, MUC15, MUC2, MUC5AC, MUC5B, MUC6, MUS81, MYO7A, MYRF, NAALAD2, NADSYN1, NAP1L4, NARS2, NAT10, NAV2, NCAM1, NCAPD3, NDUFC2, NDUFS8, NELL1, NEU3, NFRKB, NLRP14, NLRP6, NLRX1, NOX4, NPAT, NRXN2, NTM, NUCB2, NUDT22, NUP160, NUP98, NXPE2, OAF, OR10A2, OR10A6, OR10D3, OR10G4, OR10G7, OR10G9, OR10Q1, OR10S1, OR10V1, OR10W1, OR1S1, OR1S2, OR2AG2, OR2AT4, OR2D2, OR2D3, OR4A16, OR4A47, OR4A5, OR4B1, OR4C11, OR4C12, OR4C13, OR4C15, OR4C16, OR4C3, OR4C46, OR4C5, OR4D11, OR4D6, OR4D9, OR4P4, OR4S1, OR4S2, OR4X1, OR51A2, OR51A4, OR51A7, OR51B2, OR51B5, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51H1P, OR51I1, OR51I2, OR51L1, OR51M1, OR51S1, OR51V1, OR52A1, OR52A5, OR52B1P, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I1, OR52L1, OR52N1, OR52N2, OR52N4, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56B1, OR56B4, OR5A1, OR5A2, OR5AK2, OR5AN1, OR5AR1, OR5AS1, OR5B12, OR5B17, OR5B3, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5M1, OR5M10, OR5M11, OR5M3, OR5P2, OR5P3, OR5R1, OR5T1, OR5T2, OR5W2, OR6A2, OR6M1, OR6Q1, OR6X1, OR8A1, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D4, OR8G1, OR8G5, OR8H1, OR8H2, OR8H3, OR8J1, OR8K1, OR8K3, OR8K5, OR8U1, OR9G1, OR9G4, OR9Q1, OR9Q2, OSBPL5, OTOG, OVCH2, P2RX3, P2RY2, P4HA3, PACS1, PAFAH1B2, PANX1, PARVA, PATE2, PATE3, PCNXL3, PCSK7, PDDC1, PDE2A, PDE3B, PDGFD, PDHX, PDZD3, PEX16, PGM2L1, PHLDB1, PHRF1, PICALM, PIDD, PIK3C2A, PITPNM1, PIWIL4, PKP3, PLCB3, PLEKHA7, PNPLA2, POLA2, POLR2L, POU2F3, PPFIA1, PPFIBP2, PPP1R14B, PPP1R32, PPP2R1B, PRDM11, PRDX5, PRG2, PRG3, PRKCDBP, PRMT3, PRPF19, PRR5L, PRRG4, PSMD13, PTDSS2, PTGDR2, PTPN5, PTPRJ, PUS3, PVRL1, QSER1, RAB38, RAB3IL1, RAG1, RAPSN, RARRES3, RASGRP2, RASSF7, RBM7, RBMXL2, RCN1, RCOR2, RELA, RHOD, RIC8A, RIN1, RNF169, RNF26, RNH1, ROBO3, ROM1, RP11-113D6.10, RP11-113D6.6, RP11-794P6.2, RP11-867G23.8, RPS6KB2, RRM1, RRP8, RTN3, SAA1, SAA2, SAA4, SAAL1, SAC3D1, SART1, SBF2, SCGB1C1, SCGB1D2, SCUBE2, SDHAF2, SERGEF, SERPINH1, SHANK2, SIGIRR, SIPA1, SIRT3, SLC15A3, SLC22A10, SLC22A12, SLC22A18, SLC22A18AS, SLC22A24, SLC22A25, SLC22A8, SLC25A45, SLC37A2, SLC37A4, SLC39A13, SLC5A12, SLC6A5, SLCO2B1, SMCO4, SMPD1, SMTNL1, SNX15, SNX19, SORL1, SOX6, SPATA19, SPCS2, SPI1, SPTBN2, SPTY2D1, SRSF8, SSH3, ST14, ST3GAL4, ST5, STIM1, STT3A, SUV420H1, SWAP70, SYT8, SYT9, SYTL2, TAF1D, TCIRG1, TCN1, TCP11L1, TEAD1, TECTA, TENM4, TEX12, TEX40, TH, THY1, TIMM10B, TIRAP, TM7SF2, TMEM109, TMEM132A, TMEM133, TMEM135, TMEM216, TMEM225, TMEM25, TMEM262, TMPRSS13, TMPRSS4, TMPRSS5, TNKS1BP1, TNNI2, TP53I11, TPCN2, TPP1, TRAPPC4, TREH, TRIM21, TRIM22, TRIM29, TRIM3, TRIM49, TRIM49B, TRIM49C, TRIM5, TRIM6, TRIM6-TRIM34, TRIM64C, TRIM66, TRIM77, TRPM5, TRPT1, TSGA10IP, TSKU, TSPAN18, TSPAN32, TSPAN4, TSSC4, TTC12, TYR, UBASH3B, UBE2L6, UBE4A, UBQLN3, UBQLNL, UCP2, UCP3, UNC93B1, UPK2, USH1C, USP2, USP28, USP35, USP47, VEGFB, VPS11, VPS26B, VPS37C, VPS51, VWA5A, WEE1, WT1, XRRA1, ZDHHC13, ZFP91, ZNF143, ZNF202, ZNF214, ZNF215, ZNHIT2, ZP1,

Genes at Omim

ABCC8, ACAD8, ACAT1, ACP2, AIP, ALG9, ALX4, ANKK1, ANO3, ANO5, APOC3, ATM, BDNF, BEST1, C2CD3, CABP2, CAPN1, CAPN5, CASP12, CAT, CATSPER1, CD151, CD3E, CD44, CD82, CDON, CEP164, CEP57, CPT1A, CRYAB, CTSC, CYP2R1, DCHS1, DCPS, DDB2, DHCR7, DLAT, DNAJB13, DPAGT1, DRD4, DYNC2H1, EFEMP2, EXPH5, EXT2, F2, FAM111A, HBB, HBG1, HEPACAM, HMBS, HPS5, HRAS, IFITM3, IGHMBP2, IL10RA, INS, IRF7, KCNJ11, KCNJ5, KIRREL3, KLC2, LDHA, LGR4, LMO1, LMO2, LRP4, LRP5, LRTOMT, MAML2, MED17, MEN1, MFRP, MMP1, MMP20, MMP3, MTMR2, MTNR1B, MUC5B, MYO7A, NARS2, NDUFS8, OTOG, PACS1, PEX16, PICALM, PNPLA2, PPP2R1B, PTPRJ, PUS3, RAG1, RAPSN, RASGRP2, ROBO3, ROM1, SBF2, SDHAF2, SERPINH1, SHANK2, SLC22A12, SLC37A4, SLC39A13, SLC6A5, SMPD1, SPTBN2, ST14, STIM1, STT3A, TCIRG1, TEAD1, TECTA, TENM4, TH, TIRAP, TMEM216, TNNI2, TPCN2, TPP1, TREH, TYR, UCP2, UCP3, UNC93B1, USH1C, VPS11, WT1, ZP1,
ABCC8 Diabetes mellitus, noninsulin-dependent, 125853 (3)
Diabetes mellitus, permanent neonatal, 606176 (3)
Diabetes mellitus, transient neonatal 2, 610374 (3)
Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)
Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
ACAD8 Isobutyryl-CoA dehydrogenase deficiency, 611283 (3)
ACAT1 Alpha-methylacetoacetic aciduria, 203750 (3)
ACP2 ?Lysosomal acid phosphatase deficiency, 200950 (1)
AIP Pituitary adenoma, ACTH-secreting, 219090 (3)
Pituitary adenoma, growth hormone-secreting, 102200 (3)
Pituitary adenoma, prolactin-secreting, 600634 (3)
ALG9 Congenital disorder of glycosylation, type Il, 608776 (3)
Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
ALX4 Frontonasal dysplasia 2, 613451 (3)
Parietal foramina 2, 609597 (3)
{Craniosynostosis 5, susceptibility to}, 615529 (3)
ANKK1 Dopamine receptor D2, reduced brain density of (3)
ANO3 Dystonia 24, 615034 (3)
ANO5 Gnathodiaphyseal dysplasia, 166260 (3)
Miyoshi muscular dystrophy 3, 613319 (3)
Muscular dystrophy, limb-girdle, type 2L, 611307 (3)
APOC3 Apolipoprotein C-III deficiency, 614028 (3)
ATM Ataxia-telangiectasia, 208900 (3)
Lymphoma, B-cell non-Hodgkin, somatic (3)
Lymphoma, mantle cell, somatic (3)
T-cell prolymphocytic leukemia, somatic (3)
{Breast cancer, susceptibility to}, 114480 (3)
BDNF Central hypoventilation syndrome, congenital, 209880 (3)
{Anorexia nervosa, susceptibility to}, 610269 (3)
{Bulimia nervosa, age of onset of weight loss in}, 607499 (3)
{Memory impairment, susceptibility to} (3)
{Obsessive-compulsive disorder, protection against}, 164230 (3)
BEST1 Bestrophinopathy, autosomal recessive, 611809 (3)
Macular dystrophy, vitelliform, 2, 153700 (3)
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3)
Retinitis pigmentosa, concentric, 613194 (3)
Retinitis pigmentosa-50, 613194 (3)
Vitreoretinochoroidopathy, 193220 (3)
C2CD3 ?Orofaciodigital syndrome XIV, 615948 (3)
CABP2 Deafness, autosomal recessive 93, 614899 (3)
CAPN1 Spastic paraplegia 76, autosomal recessive, 616907 (3)
CAPN5 Vitreoretinopathy, neovascular inflammatory, 193235 (3)
CASP12 {Sepsis, susceptibility to} (3)
CAT Acatalasemia, 614097 (3)
CATSPER1 Spermatogenic failure 7, 612997 (3)
CD151 Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3)
[Blood group, Raph], 179620 (3)
CD3E Immunodeficiency 18, 615615 (3)
Immunodeficiency 18, SCID variant, 615615 (3)
CD44 [Blood group, Indian system], 609027 (3)
CD82 {Prostate cancer, susceptibility to}, 176807 (2)
CDON Holoprosencephaly 11, 614226 (3)
CEP164 Nephronophthisis 15, 614845 (3)
CEP57 Mosaic variegated aneuploidy syndrome 2, 614114 (3)
CPT1A CPT deficiency, hepatic, type IA, 255120 (3)
CRYAB Cardiomyopathy, dilated, 1II, 615184 (3)
Cataract 16, multiple types, 613763 (3)
Myopathy, myofibrillar, 2, 608810 (3)
Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related, 613869 (3)
CTSC Haim-Munk syndrome, 245010 (3)
Papillon-Lefevre syndrome, 245000 (3)
Periodontitis 1, juvenile, 170650 (3)
CYP2R1 Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3)
DCHS1 Mitral valve prolapse 2, 607829 (3)
Van Maldergem syndrome 1, 601390 (3)
DCPS Al-Raqad syndrome, 616459 (3)
DDB2 Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3)
DHCR7 Smith-Lemli-Opitz syndrome, 270400 (3)
DLAT Pyruvate dehydrogenase E2 deficiency, 245348 (3)
DNAJB13 Ciliary dyskinesia, primary, 34, 617091 (3)
DPAGT1 Congenital disorder of glycosylation, type Ij, 608093 (3)
Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3)
DRD4 Autonomic nervous system dysfunction (3)
[Novelty seeking personality], 601696 (1)
{Attention deficit-hyperactivity disorder}, 143465 (3)
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)
EFEMP2 Cutis laxa, autosomal recessive, type IB, 614437 (3)
EXPH5 Epidermolysis bullosa, nonspecific, autosomal recessive, 615028 (3)
EXT2 ?Seizures, scoliosis, and macrocephaly syndrome, 616682 (3)
Exostoses, multiple, type 2, 133701 (3)
F2 Dysprothrombinemia, 613679 (3)
Hypoprothrombinemia, 613679 (3)
Thrombophilia due to thrombin defect, 188050 (3)
{Pregnancy loss, recurrent, susceptibility to, 2}, 614390 (3)
{Stroke, ischemic, susceptibility to}, 601367 (3)
FAM111A Gracile bone dysplasia, 602361 (3)
Kenny-Caffey syndrome, type 2, 127000 (3)
HBB Delta-beta thalassemia, 141749 (3)
Erythremias, beta- (3)
Heinz body anemias, beta-, 140700 (3)
Hereditary persistence of fetal hemoglobin, 141749 (3)
Methemoglobinemias, beta- (3)
Sickle cell anemia, 603903 (3)
Thalassemia-beta, dominant inclusion-body, 603902 (3)
Thalassemias, beta-, 613985 (3)
{Malaria, resistance to}, 611162 (3)
HBG1 Fetal hemoglobin quantitative trait locus 1, 141749 (3)
HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3)
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 (3)
HMBS Porphyria, acute intermittent, 176000 (3)
Porphyria, acute intermittent, nonerythroid variant, 176000 (3)
HPS5 Hermansky-Pudlak syndrome 5, 614074 (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)
IFITM3 {Influenza, severe, susceptibility to}, 614680 (3)
IGHMBP2 Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3)
Neuronopathy, distal hereditary motor, type VI, 604320 (3)
IL10RA Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3)
INS Diabetes mellitus, insulin-dependent, 2, 125852 (3)
Diabetes mellitus, permanent neonatal, 606176 (3)
Hyperproinsulinemia, 616214 (3)
Maturity-onset diabetes of the young, type 10, 613370 (3)
IRF7 ?Immunodeficiency 39, 616345 (3)
KCNJ11 Diabetes mellitus, permanent neonatal, with neurologic features, 606176 (3)
Diabetes mellitus, transient neonatal, 3, 610582 (3)
Diabetes, permanent neonatal, 606176 (3)
Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)
Maturity-onset diabetes of the young, type 13, 616329 (3)
{Diabetes mellitus, type 2, susceptibility to}, 125853 (3)
KCNJ5 Hyperaldosteronism, familial, type III, 613677 (3)
Long QT syndrome 13, 613485 (3)
KIRREL3 Mental retardation, autosomal dominant 4, 612581 (3)
KLC2 Spastic paraplegia, optic atrophy, and neuropathy, 609541 (3)
LDHA Glycogen storage disease XI, 612933 (3)
LGR4 {Bone mineral density, low, susceptibility to}, 615311 (3)
LMO1 Leukemia, T-cell acute lymphoblastic (2)
LMO2 Leukemia, acute T-cell (2)
LRP4 ?Myasthenic syndrome, congenital, 17, 616304 (3)
Cenani-Lenz syndactyly syndrome, 212780 (3)
Sclerosteosis 2, 614305 (3)
LRP5 Exudative vitreoretinopathy 4, 601813 (3)
Hyperostosis, endosteal, 144750 (3)
Osteopetrosis, autosomal dominant 1, 607634 (3)
Osteoporosis-pseudoglioma syndrome, 259770 (3)
Osteosclerosis, 144750 (3)
[Bone mineral density variability 1], 601884 (3)
van Buchem disease, type 2, 607636 (3)
{Osteoporosis}, 166710 (3)
LRTOMT Deafness, autosomal recessive 63, 611451 (3)
MAML2 Mucoepidermoid salivary gland carcinoma (3)
MED17 Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)
MEN1 Adrenal adenoma, somatic (3)
Angiofibroma, somatic (3)
Carcinoid tumor of lung (3)
Lipoma, somatic (3)
Multiple endocrine neoplasia 1, 131100 (3)
Parathyroid adenoma, somatic (3)
MFRP Microphthalmia, isolated 5, 611040 (3)
Nanophthalmos 2, 609549 (3)
MMP1 COPD, rate of decline of lung function in, 606963 (3)
{Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3)
MMP20 Amelogenesis imperfecta, type IIA2, 612529 (3)
MMP3 {Coronary heart disease, susceptibility to, 6}, 614466 (3)
MTMR2 Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
MTNR1B {Diabetes mellitus, type 2, susceptibility to}, 125853 (3)
MUC5B {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
MYO7A Deafness, autosomal dominant 11, 601317 (3)
Deafness, autosomal recessive 2, 600060 (3)
Usher syndrome, type 1B, 276900 (3)
NARS2 Combined oxidative phosphorylation deficiency 24, 616239 (3)
NDUFS8 Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
OTOG Deafness, autosomal recessive 18B, 614945 (3)
PACS1 Schuss-Hoeijmakers sydnrome, 615009 (3)
PEX16 Peroxisome biogenesis disorder 8A, (Zellweger), 614876 (3)
Peroxisome biogenesis disorder 8B, 614877 (3)
PICALM Leukemia, acute myeloid, somatic, 601626 (3)
PNPLA2 Neutral lipid storage disease with myopathy, 610717 (3)
PPP2R1B Lung cancer, 211980 (3)
PTPRJ Colon cancer, somatic, 114500 (3)
PUS3 ?Mental retardation, autosomal recessive 55, 617051 (3)
RAG1 Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3)
Combined cellular and humoral immune defects with granulomas, 233650 (3)
Omenn syndrome, 603554 (3)
Severe combined immunodeficiency, B cell-negative, 601457 (3)
RAPSN Fetal akinesia deformation sequence, 208150 (3)
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3)
RASGRP2 ?Bleeding disorder, platelet-type, 18, 615888 (3)
ROBO3 Gaze palsy, horizontal, with progressive scoliosis, 607313 (3)
ROM1 Retinitis pigmentosa 7, digenic, 608133 (3)
SBF2 Charcot-Marie-Tooth disease, type 4B2, 604563 (3)
SDHAF2 Paragangliomas 2, 601650 (3)
SERPINH1 ?Osteogenesis imperfecta, type X, 613848 (3)
{Preterm premature rupture of the membranes, susceptibility to}, 610504 (3)
SHANK2 {Autism susceptibility 17}, 613436 (3)
SLC22A12 Hypouricemia, renal, 220150 (3)
SLC37A4 Glycogen storage disease Ib, 232220 (3)
Glycogen storage disease Ic, 232240 (3)
SLC39A13 Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350 (3)
SLC6A5 Hyperekplexia 3, 614618 (3)
SMPD1 Niemann-Pick disease, type A, 257200 (3)
Niemann-Pick disease, type B, 607616 (3)
SPTBN2 Spinocerebellar ataxia 5, 600224 (3)
Spinocerebellar ataxia, autosomal recessive 14, 615386 (3)
ST14 Ichthyosis, congenital, autosomal recessive 11, 602400 (3)
STIM1 Immunodeficiency 10, 612783 (3)
Myopathy, tubular aggregate, 1 160565 (3)
Stormorken syndrome, 185070 (3)
STT3A ?Congenital disorder of glycosylation, type Iw, 615596 (3)
TCIRG1 Osteopetrosis, autosomal recessive 1, 259700 (3)
TEAD1 Sveinsson chorioretinal atrophy, 108985 (3)
TECTA Deafness, autosomal dominant 8/12, 601543 (3)
Deafness, autosomal recessive 21, 603629 (3)
TENM4 Tremor, hereditary essential, 5, 616736 (3)
TH Segawa syndrome, recessive, 605407 (3)
TIRAP {Bacteremia, protection against}, 614382 (3)
{Malaria, protection against}, 611162 (3)
{Pneumococcal disease, invasive, protection against}, 610799 (3)
{Tuberculosis, protection against}, 607948 (3)
TMEM216 Joubert syndrome 2, 608091 (3)
Meckel syndrome 2, 603194 (3)
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3)
TPCN2 [Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3)
TPP1 Ceroid lipofuscinosis, neuronal, 2, 204500 (3)
Spinocerebellar ataxia, autosomal recessive 7, 609270 (3)
TREH Trehalase deficiency, 612119 (1)
TYR Albinism, oculocutaneous, type IA, 203100 (3)
Albinism, oculocutaneous, type IB, 606952 (3)
Waardenburg syndrome/albinism, digenic, 103470 (3)
[Skin/hair/eye pigmentation 3, blue/green eyes], 601800 (3)
[Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 (3)
{Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 (3)
UCP2 {Obesity, susceptibility to, BMIQ4}, 607447 (3)
UCP3 {Obesity, severe, and type II diabetes}, 601665 (3)
UNC93B1 {Herpes simplex encephalitis, susceptibility to, 1}, 610551 (3)
USH1C Deafness, autosomal recessive 18A, 602092 (3)
Usher syndrome, type 1C, 276904 (3)
VPS11 Leukodystrophy, hypomyelinating, 12, 616683 (3)
WT1 Denys-Drash syndrome, 194080 (3)
Frasier syndrome, 136680 (3)
Meacham syndrome, 608978 (3)
Mesothelioma, somatic, 156240 (3)
Nephrotic syndrome, type 4, 256370 (3)
Wilms tumor, type 1, 194070 (3)
ZP1 Oocyte maturation defect 1, 615774 (3)

Genes at Clinical Genomics Database

ABCC8, ACAD8, ACAT1, AIP, ALG9, ALX4, ANO3, ANO5, APOC3, ATM, BDNF, BEST1, C2CD3, CABP2, CAPN1, CAPN5, CAT, CD151, CD3E, CD44, CDON, CEP164, CEP57, CPT1A, CREB3L1, CRYAB, CTSC, CYP2R1, DCHS1, DCPS, DDB2, DHCR7, DLAT, DPAGT1, DRD2, DYNC2H1, EFEMP2, EXPH5, EXT2, F2, FAM111A, FERMT3, FLI1, GRIK4, HBB, HBG1, HEPACAM, HMBS, HPS5, HRAS, IGHMBP2, IL10RA, INS, IRF7, KCNJ11, KCNJ5, KIRREL3, KLC2, LDHA, LRP4, LRP5, LRTOMT, MED17, MEN1, MFRP, MMP20, MTMR2, MYO7A, NARS2, NDUFS8, NPAT, OTOG, PACS1, PDHX, PEX16, PNPLA2, RAG1, RAPSN, RASGRP2, ROBO3, ROM1, SBF2, SDHAF2, SERPINH1, SHANK2, SLC22A12, SLC37A4, SLC39A13, SLC6A5, SMPD1, SPTBN2, ST14, STIM1, STT3A, TCIRG1, TEAD1, TECTA, TENM4, TH, TMEM216, TNNI2, TPCN2, TPP1, TYR, UNC93B1, USH1C, VPS11, WT1, ZP1,
ABCC8 Hypoglycemia, leucine-induced
Hyperinsulinemic hypoglycemia, familial, 1
Diabetes, permanent neonatal
Diabetes mellitus, transient neonatal, 2
ACAD8 Isobutyryl-CoA dehydrogenase deficiency
ACAT1 Alpha-methylacetoacetic aciduria
AIP Pituitary adenoma, familial isolated
ALG9 Congenital disorder of glycosylation, type Il
ALX4 Frontonasal dysplasia 2
Parietal foramina 2
ANO3 Craniocervical dystonia, autosomal dominant (Dystonia 24)
ANO5 Gnathodiaphyseal dysplasia
APOC3 Apolipoprotein C-III deficiency
ATM Ataxia-Telangiectasia
Breast cancer, susceptibility to
BDNF Central hypoventilation syndrome, congenital
BEST1 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
Vitreoretinochoroidopathy
C2CD3 Orofaciodigital syndrome XIV
CABP2 Deafness, autosomal recessive 93
CAPN1 Spastic paraplegia 76, autosomal recessive
CAPN5 Vitreoretinopathy, neovascular inflammatory
CAT Acatalasemia
CD151 Raph blood group
CD3E Immunodeficiency 18
CD44 Blood group, Indian
CDON Holoprosencephaly 11
CEP164 Nephronophthisis 15
CEP57 Mosaic variegated aneuploidy syndrome 2
CPT1A Carnitine palmitoyltransferase deficiency I
CREB3L1 Osteogenesis imperfecta, type XVI
CRYAB Cataract, myofibrillar myopathy and cardiomyopathy
Congenital cataract and cardiomyopathy
Cardiomyopathy, dilated, 1II
Myopathy, myofibrillar, 2
CTSC Periodontitis 1, juvenile
Papillon-Lefevre syndrome
Haim-Munk syndrome
CYP2R1 Vitamin D hydroxylation deficient rickets, type 1B
DCHS1 Mitral valve prolapse 2
DCPS Al-Raqad syndrome
DDB2 Xeroderma pigmentosum, group E
DHCR7 Smith-Lemli-Opitz syndrome
DLAT Pyruvate dehydrogenase E2 deficiency
DPAGT1 Congenital disorder of glycosylation, type Ij (AR)
Myasthenic syndrome, congenital, 13
DRD2 Myoclonic dystonia
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly
EFEMP2 Cutis laxa, autosomal recessive type IB
EXPH5 Epidermolysis bullosa, nonspecific, autosomal recessive
EXT2 Exostoses, multiple, type 2
F2 Thrombophilia due to thrombin defect
Prothrombin deficiency, congenital
FAM111A Kenny-Caffey syndrome, type 2
FERMT3 Leukocyte adhesion deficiency, type III
FLI1 Thrombocytopenia, Paris-Trousseau type
GRIK4 Response to antidepressant treatment with citalopram
HBB Other Thalassemias/Hemoglobinopathies
Thalassemia-beta, dominant inclusion body
Sickle cell disease
Beta-thalassemia
HBG1 Hereditary persistence of fetal hemoglobin
HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts 2A
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
HMBS Porphyria, acute intermittent
Hydroxymethylbilane synthase deficiency
HPS5 Hermansky-Pudlak syndrome 5
HRAS Congenital myopathy with excess of muscle spindles
Costello syndrome
IGHMBP2 Charcot-Marie-Tooth disease, axonal, type 2S
Spinal muscular atrophy, distal, autosomal recessive, 1
IL10RA Inflammatory bowel disease 28, autosomal recessive
INS Diabetes mellitus, permanent neonatal
IRF7 Immunodeficiency 39
KCNJ11 Diabetes, permanent neonatal, with Neurologic features
Diabetes, permanent neonatal
Diabetes mellitus, transient neonatal, 3
Hyperinsulinemic hypoglycemia, familial, 2
KCNJ5 Hyperaldosteronism, familial, type III
Long QT syndrome 13
KIRREL3 Mental retardation, autosomal dominant 4
KLC2 Spastic paraplegia, optic atrophy, and neuropathy
LDHA Glycogen storage disease XI
LRP4 Sclerosteosis 2
Myasthenic syndrome, congenital 17
Cenani-Lenz syndactyly syndrome
LRP5 Osteoporosis-pseudoglioma syndrome
Exudative vitreoretinopathy 4
Hyperostosis, endosteal
Osteosclerosis
Osteopetrosis, autosomal dominant 1
van Buchem disease, type 2
LRTOMT Deafness, autosomal recessive 63
MED17 Microcephaly, postnatal progressive, with seizures and brain atrophy
MEN1 Hyperparathyroidism, familial primary
Multiple endocrine neoplasia type I
MFRP Retinitis pigmentosa, autosomal recessive
Nanophthalmos 2
Microphthalmia, isolated 5
MMP20 Amelogenesis imperfecta, hypomaturation type, IIA2
MTMR2 Charcot-Marie-Tooth disease, type 4B1
MYO7A Usher syndrome, type 1B
Deafness, autosomal recessive 2
NARS2 Combined oxidative phosphorylation deficiency 24
NDUFS8 Leigh syndrome
Mitochondrial complex I deficiency
NPAT Nodular lymphocyte predominant Hodgkin lymphoma, familial
OTOG Deafness, autosomal recessive 18B
PACS1 Mental retardation, autosomal dominant 17
PDHX Pyruvate dehydrogenase E3-binding protein deficiency
PEX16 Peroxisome biogenesis factor disorder 16
PNPLA2 Neutral lipid storage disease with myopathy
RAG1 Combined cellular and humoral immune defects with granulomas
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
Omenn syndrome
T cell-negative, B cell-negative, natural killer cell-positive severe combined immunodeficiency
RAPSN Myasthenic syndrome, congenital 11, associated with acetylcholine receptor deficiency
RASGRP2 Bleeding disorder, platelet-type, 18
ROBO3 Gaze palsy, horizontal, with progressive scoliosis
ROM1 Retinitis pigmentosa 7, digenic
SBF2 Charcot-Marie-Tooth disease, type 4B2 with early-onset glaucoma
SDHAF2 Paragangliomas 2
SERPINH1 Osteogenesis imperfecta, type X
SHANK2 Autism, susceptibility to 17
SLC22A12 Hypouricemia, renal 1
SLC37A4 Glycogen storage disease Id
Glycogen storage disease Ic
Glycogen storage disease Ib
SLC39A13 Spondylocheirodysplasia, Ehlers-Danlos syndrome-like
SLC6A5 Hyperekplexia 3
SMPD1 Niemann-Pick disease, type B
Niemann-Pick disease, type A
SPTBN2 Spinocerebellar ataxia 14, autosomal recessive
Spinocerebellar ataxia 5, autosomal dominant
ST14 Ichthyosis, congenital, autosomal recessive 11
STIM1 Immunodeficiency 10
Stormorken syndrome
STT3A Congenital disorder of glycosylation, type Iw
TCIRG1 Osteopetrosis, autosomal recessive 1
TEAD1 Sveinsson choreoretinal atrophy
TECTA Deafness, autosomal dominant 8/12
Deafness, autosomal recessive 21
TENM4 Tremor, hereditary essential, 5
TH Segawa syndrome, autosomal recessive
TMEM216 Meckel syndrome 2
Joubert syndrome 2
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B
TPCN2 Skin/hair/eye pigmentation, variation in, 10
TPP1 Spinocerebellar ataxia, autosomal recessive 7
Ceroid lipofuscinosis, neuronal, 2
TYR Albinism, oculocutaneous, type IB
Albinism, oculocutaneous, type IA
UNC93B1 Herpes simplex encephalitis, susceptibility to, 1
USH1C Deafness, autosomal recessive 18A
Usher syndrome, type IC
VPS11 Leukodystrophy, hypomyelinating 12
WT1 Frasier syndrome
Wilms tumor, type 1
Denys-Drash syndrome
ZP1 Oocyte maturation defect 1

Genes at HGMD

Summary

Number of Variants: 7866
Number of Genes: 715

Export to: CSV

ABCC8

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs1799857
dbSNP
17452492 217.77 G A . 0/1 23 SYNONYMOUS_CODING LOW SILENT 0.42991 0.42990 0.45873 None None None None None None None
View mm170241ct 11 rs1048099
dbSNP
17496516 2051.77 A G . 1/1 63 SYNONYMOUS_CODING LOW SILENT 0.43930 0.43930 0.47682 None None None None None None None
View mm170241ct 11 rs757110
dbSNP
17418477 744.77 C A . 1/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.72644 0.72640 0.26144 0.63 0.00 None None None None None None None
View mm170241ct 11 rs1799858
dbSNP
17449929 530.77 C T . 0/1 36 SYNONYMOUS_CODING LOW SILENT 0.20208 0.20210 0.15671 None None None None None None None

ABTB2

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View mm170241ct 11 rs1925368
dbSNP
34378381 830.77 G C . 0/1 54 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.17891 0.17890 0.12564 0.61 0.00 None None None None None None None

ACAD8

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View mm170241ct 11 rs71486998
dbSNP
134132680 136.77 G C . 0/1 27 None None None 0.10603 0.10600 None None None None None None None
View mm170241ct 11 rs71486999
dbSNP
134132704 227.77 C T . 0/1 33 None None None 0.10603 0.10600 None None None None None None None

ACAT1

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View mm170241ct 11 rs3741056
dbSNP
107992346 186.77 G C . 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33187 0.33190 0.20971 0.02 0.14 None None None None None None None

ACCSL

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View mm170241ct 11 rs2074051
dbSNP
44080210 676.77 T C . 1/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79433 0.79430 0.20556 1.00 0.00 None None None None None None None

ACER3

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View mm170241ct 11 rs3740767
dbSNP
76701606 1945.77 G A . 0/1 112 SYNONYMOUS_CODING LOW SILENT 0.53295 0.53290 0.40072 None None None None None None None
View mm170241ct 11 rs4379869
dbSNP
76637651 3626.77 G A . 0/1 259 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62959 0.62960 0.29506 1.00 0.00 None None None None None None None
View mm170241ct 11 rs4479014
dbSNP
76637680 3559.77 G A . 0/1 278 SYNONYMOUS_CODING LOW SILENT 0.50379 0.50380 0.41728 None None None None None None None

ACP2

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View mm170241ct 11 rs757302233
dbSNP
47266315 761.77 T C . 0/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08 0.00 None None None None None None None

ACRV1

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View mm170241ct 11 rs34788353
dbSNP
125547869 3556.77 C T . 1/1 102 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06230 0.06230 0.08254 0.04 0.05 None None None None None None None

ACY3

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View mm170241ct 11 rs948445
dbSNP
67414492 402.77 C T . 1/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71985 0.71980 0.28643 0.23 0.00 None None None None None None None

ADAMTS15

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View mm170241ct 11 rs61753091
dbSNP
130343143 950.77 C T . 0/1 52 SYNONYMOUS_CODING LOW SILENT 0.00539 0.00539 0.00493 None None None None None None None
View mm170241ct 11 rs199748492
dbSNP
130343451 550.77 C T . 0/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00160 0.00160 0.00150 0.32 0.01 None None None None None None None
View mm170241ct 11 rs61746092
dbSNP
130343023 1041.77 C T . 0/1 68 SYNONYMOUS_CODING LOW SILENT 0.00919 0.00919 0.00854 None None None None None None None
View mm170241ct 11 rs731446
dbSNP
130339312 251.77 T C . 0/1 10 SYNONYMOUS_CODING LOW SILENT 0.56550 0.56550 0.33033 None None None None None None None

ADAMTS8

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View mm170241ct 11 rs2131535
dbSNP
130281488 226.77 G A . 0/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.74401 0.74400 0.25992 1.00 0.00 None None None None None None None
View mm170241ct 11 rs781772779
dbSNP
130297697 285.77 G C . 0/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48 0.00 None None None None None None None
View mm170241ct 11 rs7927048
dbSNP
130297948 496.77 C G . 0/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46925 0.46920 0.39489 0.56 0.24 None None None None None None None
View mm170241ct 11 rs10548872
dbSNP
130298117 260.73 GGCA G . 0/1 20 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.07728 0.47700 0.51250 None None None None None None None
View mm170241ct 11 rs7942034
dbSNP
130297957 465.77 T C . 0/1 28 SYNONYMOUS_CODING LOW SILENT 0.91374 0.91370 0.11270 None None None None None None None

ADRBK1

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View mm170241ct 11 rs2228418
dbSNP
67034266 853.77 C A . 1/1 28 SYNONYMOUS_CODING LOW SILENT 0.64876 0.64880 0.25747 None None None None None None None

AGBL2

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View mm170241ct 11 rs7941404
dbSNP
47712213 2328.77 C T . 0/1 156 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03894 0.03894 0.10132 1.00 0.00 None None None None None None None
View mm170241ct 11 rs12286721
dbSNP
47701528 846.77 C A . 0/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.58067 0.58070 0.43045 0.07 0.00 None None None None None None None

AHNAK

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View mm170241ct 11 rs486903
dbSNP
62293948 4538.77 G A . 1/1 129 SYNONYMOUS_CODING LOW SILENT 0.47304 0.47300 0.44170 None None None None None None None
View mm170241ct 11 rs566144
dbSNP
62292882 4559.77 G T . 1/1 130 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.00 None None None None None None None
View mm170241ct 11 rs148696788
dbSNP
62295943 2806.77 C T . 0/1 205 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.00008 0.56 None None None None None None None

AIP

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View mm170241ct 11 rs4930199
dbSNP
67258391 997.77 A G . 1/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99940 0.99940 0.00023 1.00 0.00 None None None None None None None
View mm170241ct 11 rs641081
dbSNP
67257823 1242.77 C A . 1/1 38 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84545 0.84540 0.16574 1.00 0.01 None None None None None None None

ALDH3B1

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View mm170241ct 11 rs2286168
dbSNP
67789138 110.77 C T . 0/1 17 SYNONYMOUS_CODING LOW SILENT 0.22844 0.22840 0.24438 None None None None None None None
View mm170241ct 11 rs58160034,rs397695802
dbSNP
67789293 1106.73 G GC . 1/1 29 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.00280 0.99720 0.00024 None None None None None None None
View mm170241ct 11 rs2286163
dbSNP
67793509 439.77 C T . 0/1 31 SYNONYMOUS_CODING LOW SILENT 0.22125 0.22120 0.23293 None None None None None None None
View mm170241ct 11 rs11433668,rs397777471
dbSNP
67786064 853.73 A AC . 1/1 21 None None None 1.00000 1.00000 0.00224 None None None None None None None
View mm170241ct 11 rs11436139,rs58238184
dbSNP
67795378 1619.73 G GC . 1/1 43 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.99980 0.99980 0.00424 None None None None None None None

ALDH3B2

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View mm170241ct 11 rs1551888
dbSNP
67433869 1113.77 C T . 1/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86861 0.86860 0.15022 1.00 0.00 None None None None None None None
View mm170241ct 11 rs6591270
dbSNP
67432854 875.77 T C . 1/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.93610 0.93610 0.06433 1.00 0.00 None None None None None None None
View mm170241ct 11 rs1551886
dbSNP
67430762 843.77 T C . 1/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86801 0.86800 0.14960 1.00 0.00 None None None None None None None
View mm170241ct 11 rs2447571
dbSNP
67432804 1156.77 T C . 1/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99900 0.99900 0.00023 1.00 0.00 None None None None None None None

ALG9

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs10708475,rs869187252
dbSNP
111742145 1280.73 CG C . 1/1 30 FRAME_SHIFT HIGH 1.00000 1.00000 0.00040 None None None None None None None
View mm170241ct 11 rs10502151
dbSNP
111724133 1805.77 C T . 0/1 136 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32648 0.32650 0.26369 0.06 0.12 None None None None None None None

ALKBH3

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View mm170241ct 11 rs1048928
dbSNP
43940644 1008.77 G T . 0/1 95 SYNONYMOUS_CODING LOW SILENT 0.61621 0.61620 0.46456 None None None None None None None
View mm170241ct 11 rs2434478
dbSNP
43911365 1995.77 T C . 1/1 58 SYNONYMOUS_CODING LOW SILENT 0.99760 0.99760 0.00323 None None None None None None None
View mm170241ct 11 rs1130290
dbSNP
43940602 1073.77 C G . 0/1 70 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13898 0.13900 0.20575 0.02 0.99 None None None None None None None

ALKBH8

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View mm170241ct 11 rs645056
dbSNP
107420530 13955.77 A G . 1/1 400 SYNONYMOUS_CODING LOW SILENT 0.71146 0.71150 0.22383 None None None None None None None

ALX4

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View mm170241ct 11 rs10769028
dbSNP
44297054 2872.77 T C . 1/1 86 SYNONYMOUS_CODING LOW SILENT 0.99161 0.99160 0.00877 None None None None None None None
View mm170241ct 11 rs3802805
dbSNP
44286566 751.77 G A . 1/1 23 SYNONYMOUS_CODING LOW SILENT 0.35843 0.35840 0.27461 None None None None None None None

ANAPC15

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View mm170241ct 11 rs17161980
dbSNP
71821236 612.77 A G . 0/1 50 SYNONYMOUS_CODING LOW SILENT 0.17432 0.17430 0.09780 None None None None None None None

ANGPTL5

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 11 rs3858418
dbSNP
101771248 13251.77 G A . 1/1 396 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99681 0.99680 0.00492 1.00 0.00 None None None None None None None

ANKK1

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 11 rs4938016
dbSNP
113270015 495.77 G C . 0/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00539 0.54930 0.37520 1.00 0.00 None None None None None None None
View mm170241ct 11 rs2734848
dbSNP
113270374 477.77 C T . 0/1 32 SYNONYMOUS_CODING LOW SILENT 0.00060 0.00060 0.24391 None None None None None None None
View mm170241ct 11 rs7118900
dbSNP
113266821 458.77 G A . 0/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32049 0.32050 0.22305 0.06 0.06 None None None None None None None
View mm170241ct 11 rs1800497
dbSNP
113270828 580.77 G A . 0/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32568 0.32570 0.23539 1.00 0.00 None None None None None None None

ANKRD13D

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 11 rs2298815
dbSNP
67068859 1334.77 T C . 1/1 43 SYNONYMOUS_CODING LOW SILENT 0.89477 0.89480 0.09199 None None None None None None None

ANKRD49

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 11 rs2509943
dbSNP
94231257 829.77 C G . 1/1 22 SYNONYMOUS_CODING LOW SILENT 0.54752 0.54750 0.41022 None None None None None None None

ANO1

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 11 rs34064841
dbSNP
70034026 474.77 G A . 0/1 40 SYNONYMOUS_CODING LOW SILENT 0.01098 0.01098 0.02300 None None None None None None None
View mm170241ct 11 rs2276067
dbSNP
70007392 1449.77 A G . 1/1 44 SYNONYMOUS_CODING LOW SILENT 0.65815 0.65810 0.36090 None None None None None None None
View mm170241ct 11 rs10898112
dbSNP
69934085 698.77 G A . 0/1 47 SYNONYMOUS_CODING LOW SILENT 0.19948 0.19950 0.24620 None None None None None None None
View mm170241ct 11 rs2276066
dbSNP
70007311 1043.77 A G . 1/1 31 SYNONYMOUS_CODING LOW SILENT 0.60324 0.60320 0.41343 None None None None None None None

ANO3

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 11 rs2663168
dbSNP
26568966 2604.77 A G . 0/1 158 SYNONYMOUS_CODING LOW SILENT 0.67512 0.67510 0.34930 None None None None None None None
View mm170241ct 11 rs10835051
dbSNP
26677947 850.77 C T . 0/1 73 SYNONYMOUS_CODING LOW SILENT 0.55851 0.55850 0.43894 None None None None None None None
View mm170241ct 11 rs7946841
dbSNP
26656563 1499.77 C T . 0/1 99 SYNONYMOUS_CODING LOW SILENT 0.34125 0.34130 0.35535 None None None None None None None

ANO5

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 11 rs4312063
dbSNP
22242729 2569.77 T C . 1/1 83 SYNONYMOUS_CODING LOW SILENT 0.78994 0.78990 0.15557 None None None None None None None
View mm170241ct 11 rs7481951
dbSNP
22271870 761.77 A T . 0/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.44864 0.11 0.04 None None None None None None None

ANO9

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 11 rs10794323
dbSNP
428385 165.77 A G . 0/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92173 0.92170 0.15092 0.40 0.00 None None None None None None T
View mm170241ct 11 rs10794324
dbSNP
428489 403.77 T C . 0/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.91893 0.91890 0.16818 1.00 0.00 None None None None None None T
View mm170241ct 11 rs7395065
dbSNP
433387 1592.77 A G . 1/1 47 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 1.00 0.00 None None None None None None None

AP000679.2

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 11 rs4936509
dbSNP
120041444 149.77 C T . 0/1 20 SYNONYMOUS_CODING LOW SILENT 0.50020 0.50020 None None None None None None None
View mm170241ct 11 rs7949789
dbSNP
120041110 1243.77 T A . 0/1 98 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.34924 0.34920 0.89 None None None None None None None

AP000708.1

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 11 rs11220099
dbSNP
125365285 985.77 T C . 0/1 100 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16853 0.16850 1.00 0.00 None None None None None None None

AP000769.1

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 11 rs1784858
dbSNP
65222952 1044.77 T C . 0/1 88 SYNONYMOUS_CODING LOW SILENT 0.46605 0.46610 None None None None None None None

AP001024.1

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 11 rs650686
dbSNP
107650473 201.77 G A . 0/1 20 SYNONYMOUS_CODING LOW SILENT 0.66913 0.66910 None None None None None None None

AP001024.2

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 11 rs60511673
dbSNP
107643289 97.77 T G . 0/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.66753 0.66750 1.00 0.00 None None None None None None None

AP003062.1

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 11 rs11822068
dbSNP
134856358 29.77 C A LowQual 0/1 4 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View mm170241ct 11 rs11826779
dbSNP
134856536 647.77 A G . 0/1 60 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10284 0.10280 0.01 None None None None None None None

AP003068.23

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 11 rs3953797
dbSNP
64948277 904.77 A C . 0/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29812 0.29810 0.78 0.00 None None None None None None None

AP2A2

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 11 rs1128413
dbSNP
1010694 128.77 C T . 0/1 15 None None None 0.42772 0.42770 0.00 0.00 None None None None None None D
View mm170241ct 11 rs11538725
dbSNP
993907 711.77 C G . 0/1 74 SYNONYMOUS_CODING LOW SILENT 0.18451 0.18450 0.13097 None None None None None None None
View mm170241ct 11 rs10794358
dbSNP
985547 295.77 C T . 0/1 36 SYNONYMOUS_CODING LOW SILENT 0.46106 0.46110 0.44776 None None None None None None None

AP5B1

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 11 rs610037
dbSNP
65546857 508.77 A C . 0/1 37 SYNONYMOUS_CODING LOW SILENT 0.45387 0.45390 0.43501 None None None None None None None

APIP

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 11 rs2986429
dbSNP
34918375 6028.77 A G . 1/1 172 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.65036 0.65040 0.46 0.00 None None None None None None None
View mm170241ct 11 rs1571133
dbSNP
34909926 3180.76 T G . 1/1 95 SYNONYMOUS_CODING LOW SILENT 0.57947 0.57950 0.40185 None None None None None None None
View mm170241ct 11 rs61734605
dbSNP
34916657 2796.77 C T . 1/1 82 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.11462 0.11460 0.24946 0.07 0.05 None None None None None None None

APLNR

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 11 rs948847
dbSNP
57004344 518.77 G T . 0/1 41 SYNONYMOUS_CODING LOW SILENT 0.58467 0.58470 0.48438 None None None None None None None

APOA4

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 11 rs5092
dbSNP
116693464 530.77 C T . 0/1 44 SYNONYMOUS_CODING LOW SILENT 0.71985 0.71980 0.16146 None None None None None None None
View mm170241ct 11 rs5104
dbSNP
116692334 522.77 C T . 0/1 47 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.75919 0.75920 0.12629 1.00 0.00 None None None None None None None
View mm170241ct 11 rs2234668
dbSNP
116692324 411.77 G A . 0/1 45 SYNONYMOUS_CODING LOW SILENT 0.02496 0.02496 0.03664 None None None None None None None
View mm170241ct 11 rs675
dbSNP
116691675 1044.77 T A . 0/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.09884 0.16854 0.36 0.01 None None None None None None None

APOC3

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 11 rs4520
dbSNP
116701535 451.77 T C . 0/1 36 SYNONYMOUS_CODING LOW SILENT 0.59705 0.59700 0.25935 None None None None None None None

ARAP1

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 11 rs2291289
dbSNP
72408657 290.77 C T . 0/1 16 SYNONYMOUS_CODING LOW SILENT 0.25899 0.25900 0.34129 None None None None None None None
View mm170241ct 11 rs12805218
dbSNP
72396990 1388.77 G A . 1/1 40 None None None 0.41354 0.41350 None None None None None None None
View mm170241ct 11 . 72418366 15.88 C T LowQual 0/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60 0.00 None None None None None None None

ARFGAP2

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 11 rs4752820
dbSNP
47188314 1285.77 T C . 1/1 38 SYNONYMOUS_CODING LOW SILENT 0.99880 0.99880 0.00185 None None None None None None None

ARHGAP1

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 11 rs4268467
dbSNP
46702920 1259.77 T C . 1/1 36 SYNONYMOUS_CODING LOW SILENT 0.99920 0.99920 0.00139 None None None None None None None

ARHGAP32

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 11 rs670440
dbSNP
128868239 2546.77 T C . 0/1 195 SYNONYMOUS_CODING LOW SILENT 0.57109 0.57110 0.33926 None None None None None None None

ARHGAP42

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 11 rs569336
dbSNP
100847069 930.77 G A . 0/1 64 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.49621 0.49620 0.28340 0.36 0.00 None None None None None None None
View mm170241ct 11 rs569270
dbSNP
100847050 1550.77 A G . 1/1 49 SYNONYMOUS_CODING LOW SILENT 0.56010 0.56010 0.39969 None None None None None None None
View mm170241ct 11 rs654593
dbSNP
100846936 2115.77 A G . 1/1 58 SYNONYMOUS_CODING LOW SILENT 0.57388 0.57390 0.40999 None None None None None None None