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
RS1596369527 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1596369682 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596374422 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS1596374943 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
RS1596375342 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1596377439 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1596377481 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1596382055 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1596382268 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596382441 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596382895 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1596384304 TSC2 Health Risk Pathogenic —
RS1596385588 PIGQ Health Risk Pathogenic Epilepsy, Epilepsy
RS1596385627 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1596385749 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1596386673 TPM1 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1596387135 VPS13C Health Risk Likely pathogenic Young-onset Parkinson disease, Young-onset Parkinson disease
RS1596389437 TSC2 Health Risk Pathogenic —
RS1596389562 TSC2 Health Risk Pathogenic —
RS1596393434 DIAPH1 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS1596400038 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596400436 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1596400563 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1596404187 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596404280 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1596406306 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1596409872 IGF1R Health Risk Likely pathogenic Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS1596413181 IGF1R Health Risk Pathogenic Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS1596415173 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1596417662 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596418520 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596419511 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1596419766 IFT140 Health Risk Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS1596421912 DIAPH1 Health Risk Likely pathogenic Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS1596427937 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1596427956 CHD2 Health Risk Pathogenic —
RS1596427970 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1596429174 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1596432295 NR2F2 Health Risk Pathogenic —
RS1596436494 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1596439426 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596439555 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596441025 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1596442866 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1596443241 CHD2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1596443444 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1596447013 CHD2 Health Risk Pathogenic —
RS1596447015 CHD2 Health Risk Pathogenic —
RS1596455074 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596455392 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1596456893 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1596457128 IGF1R Health Risk Pathogenic —
RS1596457919 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1596458294 CHD2 Health Risk Likely pathogenic —
RS1596459125 CHSY1 Health Risk Pathogenic Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome
RS1596460327 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
RS1596460606 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1596468621 IGF1R Health Risk Likely pathogenic —
RS1596468719 IGF1R Health Risk Likely pathogenic Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS1596471547 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1596471581 PKD1 Health Risk Likely pathogenic —
RS1596471698 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1596471934 GRIN2A Health Risk Pathogenic —
RS1596472276 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596472500 ABAT Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS1596472892 IGF1R Health Risk Pathogenic/Likely pathogenic Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS1596473289 PKD1 Health Risk Pathogenic PKD1-related disorder, PKD1-related disorder
RS1596473420 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596473434 PKD1 Health Risk Likely pathogenic —
RS1596474115 PKD1 Health Risk Likely pathogenic —
RS1596474136 PKD1 Health Risk Likely pathogenic —
RS1596474257 PKD1 Health Risk Likely pathogenic —
RS1596475245 PKD1 Health Risk Likely pathogenic —
RS1596475487 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596476061 IGF1R Health Risk Likely pathogenic NK-cell enteropathy, NK-cell enteropathy
RS1596476159 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Inborn genetic diseases
RS1596476163 IGF1R Health Risk Likely pathogenic Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS1596476300 PKD1 Health Risk Likely pathogenic —
RS1596476503 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596476657 GRIN2A Health Risk Pathogenic/Likely pathogenic Intellectual disability, Landau-Kleffner syndrome
RS1596480112 PKD1;PKD1-AS1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596480400 PKD1 Health Risk Likely pathogenic —
RS1596481464 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1596481630 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1596481676 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1596481858 PKD1 Health Risk Likely pathogenic —
RS1596481889 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1596482597 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596483044 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1596485727 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1596485816 PKD1 Health Risk Likely pathogenic —
RS1596485991 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1596488823 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1596488828 PKD1 Health Risk Likely pathogenic —
RS1596489094 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1596489887 PMM2 Health Risk Likely pathogenic Cerebellar ataxia, Muscular dystrophy
RS1596490025 PKD1 Health Risk Pathogenic —
RS1596494610 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1596494684 GRIN2A Health Risk Likely pathogenic —
RS1596500172 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
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