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
RS1596223833 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1596227700 NTHL1 Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome
RS1596227962 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1596228957 BLM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Bloom syndrome
RS1596229075 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1596229797 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1596229894 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Bloom syndrome
RS1596230118 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1596232266 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1596233685 TSC2 Health Risk Likely pathogenic —
RS1596234235 TSC2 Health Risk Pathogenic —
RS1596235791 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1596238148 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS1596247721 PAM16 Health Risk Pathogenic Autosomal recessive spondylometaphyseal dysplasia, Megarbane type
RS1596250255 BLM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Bloom syndrome
RS1596250472 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1596252105 ALG1 Health Risk Pathogenic Congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1596252196 ALG1 Health Risk Likely pathogenic Congenital disorder of glycosylation, Congenital disorder of glycosylation
RS1596252279 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1596256204 ALG1 Health Risk Likely pathogenic Congenital disorder of glycosylation, Congenital disorder of glycosylation
RS1596257782 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1596259554 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1596259672 ALG1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1596259720 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596259789 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Bloom syndrome
RS1596259860 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1596261161 ALG1 Health Risk Likely pathogenic Congenital disorder of glycosylation, Congenital disorder of glycosylation
RS1596261208 ALG1 Health Risk Pathogenic Congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1596261268 ALG1 Health Risk Pathogenic/Likely pathogenic Congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1596263036 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1596264554 MNS1 Health Risk Likely pathogenic Situs inversus, Heterotaxy
RS1596265482 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596267627 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1596268270 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1596270677 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1596270787 TSC2 Health Risk Pathogenic —
RS1596270815 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1596273579 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1596273687 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS1596273746 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1596275276 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1596275494 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596277148 ROGDI Health Risk Pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS1596278377 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1596288578 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596288988 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, TSC2-related disorder
RS1596298137 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596298721 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1596303148 TPM1 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS1596303442 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1596303739 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1596303814 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596305980 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1596307300 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596312554 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596317691 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1596317714 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596318782 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1596324325 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group I
RS1596330487 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS1596335566 DIAPH1 Health Risk Likely pathogenic Macrothrombocytopenia, Hearing impairment
RS1596335963 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596336374 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1596336436 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596336945 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1596339533 DIAPH1 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 1, Autosomal dominant nonsyndromic hearing loss 1
RS1596341256 TRIP4 Health Risk Pathogenic —
RS1596342515 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1596342841 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Rhabdomyoma
RS1596343067 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS1596343922 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596344279 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596345229 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1596348299 VPS33B Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS1596348339 POLG Health Risk Likely pathogenic —
RS1596348443 POLG Health Risk Pathogenic/Likely pathogenic Sensory ataxic neuropathy, dysarthria
RS1596348470 FANCI;POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1596348547 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1596350117 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b
RS1596350386 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, 6 conditions
RS1596350476 TSC2 Health Risk Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II, Lymphangiomyomatosis
RS1596350698 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596351849 MYO1E Health Risk Likely pathogenic Focal segmental glomerulosclerosis 6, Focal segmental glomerulosclerosis 6
RS1596352071 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1596352300 POLG Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
RS1596352762 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1596352895 POLG Health Risk Pathogenic/Likely pathogenic Sensory ataxic neuropathy, dysarthria
RS1596353095 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS1596354607 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1596356248 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596356291 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1596356585 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1596356898 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596358408 POLG Health Risk Likely pathogenic Sensory ataxic neuropathy, dysarthria
RS1596358564 VPS33B Health Risk Likely pathogenic Arthrogryposis, renal dysfunction
RS1596359384 POLG Health Risk Pathogenic mitochondrial hepatopathy, mitochondrial hepatopathy
RS1596359629 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1596360430 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1596360976 TPM1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1Y
RS1596366489 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
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