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
RS1554900599 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554900606 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1554900615 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1554900620 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1554900622 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1554900626 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS1554900629 PTEN Health Risk Pathogenic —
RS1554900635 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1554900638 PTEN Health Risk Pathogenic —
RS1554900673 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554900675 PTEN Health Risk Pathogenic Cowden syndrome 1, Neoplasm
RS1554901463 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1554901472 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1554901523 TPP1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Neuronal ceroid lipofuscinosis 2
RS1554901576 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS1554901580 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1554901596 KCNJ11 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 13
RS1554901674 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1554901718 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Type 2 diabetes mellitus
RS1554901731 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1554901747 KCNJ11 Health Risk Pathogenic/Likely pathogenic Hypoglycemia, Diabetes mellitus
RS1554901775 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Permanent neonatal diabetes mellitus
RS1554901784 TPP1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis
RS1554901796 KCNJ11 Health Risk Conflicting classifications of pathogenicity —
RS1554901822 KCNJ11 Health Risk Likely pathogenic DEND syndrome, Maturity-onset diabetes of the young
RS1554901895 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1554901898 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1554902020 TPP1 Health Risk Pathogenic —
RS1554902043 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1554902052 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 2
RS1554902085 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS1554902216 TPP1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis
RS1554902217 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1554902528 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1554902760 CWF19L1 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17
RS1554902811 RECQL4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554902885 EBF3 Health Risk Likely pathogenic —
RS1554903709 RECQL4 Health Risk Pathogenic/Likely pathogenic Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS1554903728 HPS6 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS1554903804 KCNQ1 Health Risk Pathogenic Jervell and Lange-Nielsen syndrome 1, Jervell and Lange-Nielsen syndrome 1
RS1554903842 PCDH15 Health Risk Pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1554903979 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1554904006 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS1554904102 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1554904107 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1554904136 ABCC8 Health Risk Likely pathogenic Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS1554904159 BRSK2 Health Risk Pathogenic —
RS1554904186 CWF19L1 Health Risk Pathogenic —
RS1554904330 EBF3 Health Risk Pathogenic Hypotonia, ataxia
RS1554904554 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1554904565 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1554904685 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1554904702 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Inborn genetic diseases
RS1554904772 BRSK2 Health Risk Likely pathogenic —
RS1554904773 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1554904904 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1554904936 ABCC8 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Transitory neonatal diabetes mellitus
RS1554905068 LGI1 Health Risk Likely pathogenic —
RS1554905145 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS1554905662 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1554906003 BRSK2 Health Risk Pathogenic —
RS1554906133 GLUD1 Health Risk Pathogenic —
RS1554906449 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1554906579 BLNK Health Risk Pathogenic Agammaglobulinemia 4, autosomal recessive
RS1554906786 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS1554906790 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1554907337 FGFR2 Health Risk Likely pathogenic Levy-Hollister syndrome, Levy-Hollister syndrome
RS1554907364 FGFR2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554907767 LGI1 Health Risk Pathogenic Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features
RS1554907787 LGI1 Health Risk Pathogenic Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features
RS1554907835 LGI1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant epilepsy with auditory features, Inborn genetic diseases
RS1554908290 EHMT1 Health Risk Pathogenic/Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1554908367 EHMT1 Health Risk Likely pathogenic —
RS1554908411 EHMT1 Health Risk Pathogenic —
RS1554909277 ABCC8 Health Risk Pathogenic/Likely pathogenic Permanent neonatal diabetes mellitus, Neonatal diabetes mellitus
RS1554910610 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1554911369 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1554911430 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554911481 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554911731 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1554911807 DNA2 Health Risk Likely pathogenic Mitochondrial DNA deletion syndrome with progressive myopathy, Mitochondrial DNA deletion syndrome with progressive myopathy
RS1554913069 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS1554914180 FGFR2 Health Risk Likely pathogenic —
RS1554917411 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1554917471 FGFR2 Health Risk Likely pathogenic Levy-Hollister syndrome, Levy-Hollister syndrome
RS1554917561 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1554917831 HBB Health Risk Likely pathogenic —
RS1554917888 HBB Health Risk Pathogenic Beta zero thalassemia, beta Thalassemia
RS1554917935 HBB Health Risk Pathogenic —
RS1554917947 HBB Health Risk Likely pathogenic Beta-thalassemia HBB/LCRB, Beta-thalassemia HBB/LCRB
RS1554917970 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1554918013 HBB Health Risk Conflicting classifications of pathogenicity —
RS1554918032 HBB Health Risk Pathogenic Beta zero thalassemia, beta Thalassemia
RS1554918165 HBB Health Risk Likely pathogenic beta Thalassemia, Beta-thalassemia HBB/LCRB
RS1554918177 HBB Health Risk Conflicting classifications of pathogenicity —
RS1554918214 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1554919471 KCNQ1 Health Risk Pathogenic Jervell and Lange-Nielsen syndrome 1, Jervell and Lange-Nielsen syndrome 1
RS1554920552 INS Health Risk Conflicting classifications of pathogenicity Neonatal insulin-dependent diabetes mellitus, Neonatal insulin-dependent diabetes mellitus
RS1554920580 KCNQ1 Health Risk Pathogenic Long QT syndrome 1, Long QT syndrome 1
RS1554920833 KCNQ1 Health Risk Pathogenic Jervell and Lange-Nielsen syndrome 1, Jervell and Lange-Nielsen syndrome 1
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