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
RS1565527302 SHANK2 Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS1565527512 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565529149 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1565529306 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1565529851 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565531128 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS1565531453 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS1565532385 UBE4A Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with hypotonia and gross motor and speech delay, Neurodevelopmental disorder with hypotonia and gross motor and speech delay
RS1565532554 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1565532703 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565533629 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1565533778 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565534524 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565536363 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS1565536400 TECTA Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 21, Autosomal recessive nonsyndromic hearing loss 21
RS1565538121 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS1565538536 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1565540673 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1565541335 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565541888 TECTA Health Risk Pathogenic/Likely pathogenic Hearing loss, autosomal recessive
RS1565543844 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565544020 ATM Health Risk Likely pathogenic Familial cancer of breast, Ataxia-telangiectasia syndrome
RS1565544035 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565548029 DNM1L Health Risk Pathogenic/Likely pathogenic Encephalopathy, lethal
RS1565557607 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1565557806 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1565557835 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1565561502 RECQL Health Risk Conflicting classifications of pathogenicity —
RS1565563080 LRP6 Health Risk Likely pathogenic Tooth agenesis, selective
RS1565563579 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1565567205 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1565569139 RECQL Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565569158 ATN1 Health Risk Pathogenic/Likely pathogenic Congenital ATN1 related disorder, Congenital hypotonia
RS1565570957 RECQL Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1565572949 DHH Health Risk Pathogenic 46, XY sex reversal 7
RS1565573786 DHH Health Risk Pathogenic 46, XY sex reversal 7
RS1565573892 DHH Health Risk Pathogenic 46, XY gonadal dysgenesis-motor and sensory neuropathy syndrome
RS1565574197 C12orf57 Health Risk Pathogenic/Likely pathogenic Temtamy syndrome, Temtamy syndrome
RS1565574709 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS1565579084 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1565582204 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1565582604 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS1565583382 PAK1 Health Risk Likely pathogenic Intellectual developmental disorder with macrocephaly, seizures
RS1565584679 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1565586046 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1565586067 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1565586916 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1565586921 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1565586958 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1565588719 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1565590309 PKP2 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Cardiovascular phenotype
RS1565593274 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1565593355 KRT5 Health Risk Likely pathogenic Epidermolysis bullosa simplex, EPIDERMOLYSIS BULLOSA SIMPLEX 2D
RS1565593639 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1565594157 ACVRL1 Health Risk Pathogenic —
RS1565594217 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Telangiectasia
RS1565594238 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1565594311 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1565594467 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1565594524 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1565594536 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1565594547 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1565594920 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1565594969 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1565595009 ACVRL1 Health Risk Pathogenic —
RS1565595121 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1565595129 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1565595176 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1565596114 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS1565596498 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1565596508 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1565599473 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1565601979 GLI1 Health Risk Pathogenic Polydactyly, postaxial
RS1565607217 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1565607653 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565608600 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1565609008 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1565609967 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1565611848 LRP6 Health Risk Pathogenic/Likely pathogenic Tooth agenesis, selective
RS1565620275 ITGA7 Health Risk Pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS1565622052 ITGA7 Health Risk Likely pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS1565622703 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1565622952 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1565623216 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1565623439 MYBPC3 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1565623533 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS1565623713 MYBPC3 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1565624090 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1565624196 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Cardiovascular phenotype
RS1565624501 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1565624607 MYBPC3 Health Risk Likely pathogenic —
RS1565625473 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1565625777 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1565625795 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1565626367 MYBPC3 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1565626409 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1565626826 TUBA1A Health Risk Likely pathogenic Tubulinopathy, Tubulinopathy
RS1565626851 TUBA1A Health Risk Pathogenic/Likely pathogenic Tubulinopathy, TUBA1A-associated tubulinopathy
RS1565626860 TUBA1A Health Risk Pathogenic Tubulinopathy, Tubulinopathy
RS1565626872 TUBA1A Health Risk Pathogenic Tubulinopathy, Tubulinopathy
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