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
RS2137580829 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137581002 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2137581286 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137581441 BRCA2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137581531 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137581806 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137581823 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137581837 NCAM1 Health Risk Pathogenic See cases, See cases
RS2137582027 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS2137582138 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137582429 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137583946 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137584477 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137584629 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS2137586930 SACS Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS2137588853 IFT81 Health Risk Pathogenic —
RS2137588997 SETD1B Health Risk Pathogenic/Likely pathogenic Neurodevelopmental delay, Intellectual developmental disorder with seizures and language delay
RS2137589027 SETD1B Health Risk Conflicting classifications of pathogenicity —
RS2137589126 SETD1B Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2137589721 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137589783 SETD1B Health Risk Likely pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS2137590717 SACS Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia, Spastic paraplegia
RS2137591737 DNM1L Health Risk Pathogenic —
RS2137593625 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS2137593965 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137594187 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137594297 SETD1B Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS2137595708 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS2137596319 BRCA2 Health Risk Pathogenic —
RS2137596408 SACS Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2137596415 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2137596450 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137597605 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137597915 BRCA2 Health Risk Pathogenic —
RS2137598136 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137599071 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137599630 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2137599900 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Familial cancer of breast
RS2137600028 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137600297 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137600401 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2137600531 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137600629 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137600643 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2137601092 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137601108 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2137601578 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137602329 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137602382 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS2137603199 EDNRB Health Risk Pathogenic —
RS2137603643 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137604768 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS2137606000 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137606577 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137606872 SACS Health Risk Likely pathogenic —
RS2137610838 EDNRB Health Risk Likely pathogenic Waardenburg syndrome type 4A, EDNRB-related disorder
RS2137610842 EDNRB Health Risk Likely pathogenic Waardenburg syndrome type 4A, Waardenburg syndrome type 4A
RS2137610861 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137610914 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137610942 EDNRB Health Risk Likely pathogenic Waardenburg syndrome type 4A, Waardenburg syndrome type 4A
RS2137611223 WNT10B Health Risk Pathogenic Split hand-foot malformation 6, Split hand-foot malformation 6
RS2137611873 EDNRB Health Risk Likely pathogenic —
RS2137611917 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137612089 DNM1L Health Risk Likely pathogenic DNM1L-related movement disorder, DNM1L-related movement disorder
RS2137612282 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137612346 DNM1L Health Risk Likely pathogenic Mitochondrial disease, Mitochondrial disease
RS2137612442 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2137612680 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137612852 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137612860 WNT10B Health Risk Pathogenic Split hand-foot malformation 6, Split hand-foot malformation 6
RS2137612961 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2137613060 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137613329 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137613348 BRCA2 Health Risk Pathogenic Malignant tumor of breast, Hereditary cancer-predisposing syndrome
RS2137613497 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137613912 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137614623 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2137615101 WNT10B Health Risk Pathogenic Split hand-foot malformation 6, Split hand-foot malformation 6
RS2137615131 WNT10B Health Risk Likely pathogenic Split hand-foot malformation 6, Split hand-foot malformation 6
RS2137615500 SACS Health Risk Pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS2137615608 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137616027 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137616213 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137616679 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137618829 BRCA2 Health Risk Pathogenic —
RS2137619040 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137619100 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137619109 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137619202 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137619413 HPD Health Risk Pathogenic Tyrosinemia type III, Tyrosinemia type III
RS2137619466 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137619580 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS2137619587 BRCA2 Health Risk Pathogenic Malignant tumor of breast, Malignant tumor of breast
RS2137619603 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137619621 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137619671 BRCA2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137619776 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS2137620036 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137620350 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137620416 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
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