SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS750074519 GLMN Health Risk Pathogenic/Likely pathogenic GLMN-related disorder, Glomuvenous malformation
RS750075208 NDUFS8 Health Risk Likely pathogenic —
RS750076188 NEXN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20
RS750076702 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 5
RS750077345 STING1 Health Risk Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy, Autoinflammatory syndrome
RS750077484 MSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750077868 CACNA1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS750078271 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS750078356 TRIOBP Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 28, Rare genetic deafness
RS750079325 PGAP1 Health Risk Pathogenic Intellectual disability, autosomal recessive 42
RS750080180 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Inborn genetic diseases
RS750080547 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS750080610 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS750080794 BRWD3 Health Risk Likely pathogenic Intellectual disability, X-linked 93
RS750081274 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS750082630 NDUFV2 Health Risk Pathogenic —
RS750083132 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS750083694 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS750084297 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS75008470 SNORD118 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
RS750084851 BRCA2 Health Risk Conflicting classifications of pathogenicity Malignant tumor of breast, Hereditary breast ovarian cancer syndrome
RS750085275 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS750085425 NOTCH1 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 1, Adams-Oliver syndrome 5
RS750085854 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS750085948 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS750086296 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS750086412 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Spondylometaphyseal dysplasia
RS750086555 LCAT Health Risk Conflicting classifications of pathogenicity LCAT deficiency, LCAT deficiency
RS750087191 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS750087396 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS750088530 B3GALT6 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylodysplastic type
RS750089034 LIG3 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 20 (mngie type), Mitochondrial DNA depletion syndrome 20 (mngie type)
RS750089240 MECR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750089899 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS750090479 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS750090677 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750091101 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS750091570 ALG12 Health Risk Likely pathogenic —
RS750091675 ESR2 Health Risk Conflicting classifications of pathogenicity —
RS750092574 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS750092874 CEP83 Health Risk Pathogenic Nephronophthisis 18, Nephronophthisis 18
RS750093486 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS750093817 PGAP3 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 4
RS750094760 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS750095435 STAT4 Health Risk Conflicting classifications of pathogenicity —
RS750095738 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS750097119 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS750097648 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS750099379 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis
RS750100311 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS750101275 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Charcot-Marie-Tooth disease axonal type 2X
RS750101293 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS750102016 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS750102309 JAM3 Health Risk Pathogenic —
RS750102662 BEST1 Health Risk Likely pathogenic Autosomal recessive bestrophinopathy, BEST1-related disorder
RS750102792 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS750104015 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS750104212 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS750105086 ADAR Health Risk Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS750105528 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS750107135 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS750107200 GLRA1 Health Risk Pathogenic Hereditary hyperekplexia, Hereditary hyperekplexia
RS750108017 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS750108569 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS750108837 HSPG2 Health Risk Pathogenic —
RS750109553 CERKL Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS750109872 SCN4A Health Risk Conflicting classifications of pathogenicity 7 conditions, Hyperkalemic periodic paralysis
RS750112132 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic cancer, susceptibility to
RS750112288 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS750112627 CTBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750113370 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS750113592 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS750114221 KCNQ5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 46
RS750114318 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS750115837 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS750116273 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, Hereditary cancer
RS750116711 POC1B Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 20, Cone-rod dystrophy 20
RS750117613 RYR2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS750117864 WDR62 Health Risk Likely pathogenic Microcephaly 2, primary
RS750118023 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS750118236 LAMP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Danon disease
RS750119363 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS750119982 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS750123001 LRP2 Health Risk Pathogenic —
RS750123656 ERCC2 Health Risk Pathogenic/Likely pathogenic Craniopharyngioma, Xeroderma pigmentosum
RS750123815 CCDC47 Health Risk Likely pathogenic Trichohepatoneurodevelopmental syndrome, Global developmental delay with dysmorphic features
RS750125257 APOA1 Health Risk Conflicting classifications of pathogenicity Familial visceral amyloidosis, Ostertag type
RS750125429 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS750126005 LPIN2 Health Risk Pathogenic/Likely pathogenic Majeed syndrome, Majeed syndrome
RS750126379 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS750127672 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS750128766 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS750130520 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Hearing impairment
RS750130640 ACAN Health Risk Pathogenic —
RS750131288 ACTC1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1R, Hypertrophic cardiomyopathy 11
RS750132258 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS750132441 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS750132459 TMC8 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS750132696 STRC Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16
RS750132751 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, Inborn genetic diseases
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