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
RS1554817077 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1554817140 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1554817164 TSC1 Health Risk Pathogenic —
RS1554817222 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1554817227 TSC1 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1554817259 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1554817334 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1554817336 TSC1 Health Risk Likely pathogenic —
RS1554817344 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1554817349 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1554817388 TSC1 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1554817395 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1554817540 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1554817550 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1554817612 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1554817613 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Ovarian cancer
RS1554817676 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1554817691 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1554817707 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1554817910 ZMIZ1 Health Risk Likely pathogenic Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, Syndromic neurodevelopmental disorder
RS1554818529 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1554818540 RET Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554818698 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1554819413 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1554819509 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1554819512 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1554819519 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1554819620 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1554819870 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1554819896 TSC1 Health Risk Likely pathogenic —
RS1554819900 TSC1 Health Risk Pathogenic —
RS1554819915 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1554819932 TSC1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554820265 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1554820276 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1554820321 TSC1 Health Risk Likely pathogenic —
RS1554820662 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1554820749 PCDH15 Health Risk Pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1554820894 PCDH15 Health Risk Pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1554820931 SETX Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554820966 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1F
RS1554820973 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1554820976 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1554821020 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS1554821022 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1554821436 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS1554821679 COL27A1 Health Risk Pathogenic Steel syndrome, Steel syndrome
RS1554822175 SETX Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554822213 ODAD2 Health Risk Likely pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS1554822703 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS1554822800 COL27A1 Health Risk Pathogenic —
RS1554822819 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554822891 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1554822897 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS1554823229 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1554823231 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1554823375 WDR37 Health Risk Pathogenic/Likely pathogenic 6 conditions, Cerebellar vermis hypoplasia
RS1554824185 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS1554824273 RGR Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1554825160 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554825165 PTEN Health Risk Pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS1554825168 PTEN Health Risk Pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS1554825172 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1554825174 PTEN Health Risk Likely pathogenic Cowden syndrome 1, Cowden syndrome 1
RS1554825186 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1554825189 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1554825202 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS1554825206 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1554825207 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554825209 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1554825210 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS1554825222 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554825224 PTEN Health Risk Pathogenic —
RS1554825226 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1554825235 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1554825237 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554825240 PTEN Health Risk Pathogenic —
RS1554825246 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1554825249 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Giant cell glioblastoma
RS1554825260 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1554825266 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1554825530 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1554825560 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554825571 PTEN Health Risk Pathogenic —
RS1554825602 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1554825611 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1554825615 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1554825631 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1554825643 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS1554825655 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS1554826022 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554826024 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1554826045 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1554826048 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1554826049 PTEN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1554826052 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1554826059 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1554826566 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1554826615 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1554826736 NOTCH1 Health Risk Pathogenic —
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