SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS958790148 KRAS Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, 12 conditions
RS958818801 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Radioulnar synostosis
RS958872466 CEP78 Health Risk Likely pathogenic —
RS958907803 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS958914211 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS958946520 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS958960649 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS958986994 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS959026057 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS959034410 DES Health Risk Pathogenic/Likely pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS959064823 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS959069360 SNRNP200 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 33
RS959080745 ESCO2 Health Risk Likely pathogenic Roberts-SC phocomelia syndrome, Juberg-Hayward syndrome
RS959088580 PIGV Health Risk Conflicting classifications of pathogenicity —
RS959089047 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS959097768 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS959109094 COQ8A Health Risk Likely pathogenic Cerebellar ataxia, Cerebellar ataxia
RS959113234 LDB3 Health Risk Likely pathogenic Dilated cardiomyopathy 1C, Dilated cardiomyopathy 1C
RS959119236 ABCA4 Health Risk Pathogenic —
RS959125009 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS959129403 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS959132080 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS959133191 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS959136398 FOXP2 Health Risk Pathogenic —
RS959165669 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS959180861 PCNT Health Risk Pathogenic —
RS959196154 ABCB11 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS959199078 RP1 Health Risk Pathogenic —
RS959259513 COL11A2 Health Risk Conflicting classifications of pathogenicity COL11A2-related disorder, COL11A2-related disorder
RS959284348 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS959285916 DCHS1 Health Risk Pathogenic Mitral valve prolapse, myxomatous 2
RS959316981 KCNB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 26
RS959344565 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS959384891 AUTS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS959445153 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS959497903 PNKP Health Risk Likely pathogenic —
RS959538930 NAF1 Health Risk Conflicting classifications of pathogenicity —
RS959559753 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS959570803 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS959585740 SDCCAG8 Health Risk Likely pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS959605686 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS959797914 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS959811072 RNASEH2B Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 2, Inborn genetic diseases
RS959856535 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS959859902 ALDH4A1 Health Risk Conflicting classifications of pathogenicity —
RS959911033 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS959916899 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS959923850 WDPCP Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS959933221 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS959935793 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS959968589 UNC13D Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis
RS959973779 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS960019580 DNMT3A Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS960032925 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Cardiovascular phenotype
RS960069873 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS960091241 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity —
RS960142425 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS960157635 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS960183341 HNRNPK Health Risk Conflicting classifications of pathogenicity —
RS960226186 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS960253843 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS960281682 SYNE1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive ataxia, Beauce type
RS960319940 LIAS Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS960350711 COL18A1 Health Risk Likely pathogenic —
RS960379328 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS960381964 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS960403439 DNAH1 Health Risk Likely pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS960420023 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS960430492 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS960444778 TMX2 Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS960468382 SELENON Health Risk Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS960474640 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS960497646 EXT2 Health Risk Likely pathogenic Exostoses, multiple
RS960542923 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS960577385 CSRP3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 12, Dilated cardiomyopathy 1M
RS960578029 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS960602539 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS960627780 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS960741408 LOXHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS960769310 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS961015305 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS961060711 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS961071228 POMT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS961084109 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS961090757 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 1, Cardiovascular phenotype
RS961108427 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS961150638 LIAS Health Risk Likely pathogenic —
RS961191529 TTC19 Health Risk Pathogenic —
RS961205540 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS961239925 PRKN Health Risk Pathogenic —
RS961245497 EPG5 Health Risk Pathogenic/Likely pathogenic Vici syndrome, Vici syndrome
RS961274781 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS961308480 RAI1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS961313523 DGUOK Health Risk Conflicting classifications of pathogenicity DGUOK-related disorder, DGUOK-related disorder
RS961375016 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS961440747 POMT2 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS961480381 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS961491395 ABCB4 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3
RS961502921 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS961524982 CYP7B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 5A, Hereditary spastic paraplegia 5A
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