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
RS1564799470 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1564800859 LRRC56 Health Risk Pathogenic Ciliary dyskinesia, primary
RS1564801134 PDE6C Health Risk Likely pathogenic Cone dystrophy 4, Cone dystrophy 4
RS1564801266 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1564801388 PTEN Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS1564801473 PTEN Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS1564801750 PTEN Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1564802464 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1564802738 PDE6C Health Risk Pathogenic —
RS1564802842 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1564803221 CNNM2 Health Risk Pathogenic Renal hypomagnesemia 6, Renal hypomagnesemia 6
RS1564803868 CDH23 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS1564804195 CDH23 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Pituitary adenoma 5
RS1564804342 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1564804479 RECQL4 Health Risk Pathogenic Rothmund-Thomson syndrome, Baller-Gerold syndrome
RS1564804563 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1564805039 LRRC56 Health Risk Pathogenic Ciliary dyskinesia, primary
RS1564805053 LRRC56 Health Risk Pathogenic Ciliary dyskinesia, primary
RS1564805114 CDH23 Health Risk Pathogenic/Likely pathogenic Deafness, Hearing loss
RS1564807584 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1564807887 CDH23 Health Risk Likely pathogenic —
RS1564808024 CDH23 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1, Pituitary adenoma 5
RS1564808132 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1564808313 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS1564808324 TWNK Health Risk Pathogenic/Likely pathogenic Infantile onset spinocerebellar ataxia, Infantile onset spinocerebellar ataxia
RS1564809125 TWNK Health Risk Pathogenic —
RS1564814363 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1564814427 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1564814454 PTEN Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1564814541 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1564815053 PSAP Health Risk Pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS1564816319 EBF3 Health Risk Pathogenic/Likely pathogenic Hypotonia, ataxia
RS1564820372 KCNQ1 Health Risk Pathogenic Long QT syndrome, Short QT syndrome type 2
RS1564820729 KCNQ1 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS1564820786 KCNQ1 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Long QT syndrome
RS1564820836 KCNQ1 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS1564821090 KCNQ1 Health Risk Likely pathogenic Prolonged QT interval, Long QT syndrome 1
RS1564821091 KCNQ1 Health Risk Pathogenic Long QT syndrome 1, Long QT syndrome 1
RS1564824264 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1564825392 KCNQ1 Health Risk Likely pathogenic Long QT syndrome 1, Long QT syndrome 1
RS1564825414 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome 1
RS1564826779 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1564826829 PTEN Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS1564826836 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1564828909 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1564828914 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1564828960 PTEN Health Risk Pathogenic PTEN-related disorder, Hereditary cancer-predisposing syndrome
RS1564829958 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1564830070 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1564830084 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1564830444 PTEN Health Risk Pathogenic Ovarian neoplasm, Hereditary cancer-predisposing syndrome
RS1564830522 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, Malignant tumor of breast
RS1564837778 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1564837839 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1564837868 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, Neurodevelopmental abnormality
RS1564837980 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1564837997 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1564838034 PTEN Health Risk Pathogenic Ovarian neoplasm, PTEN hamartoma tumor syndrome
RS1564840008 EBF3 Health Risk Likely pathogenic —
RS1564843957 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1564844065 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS1564844428 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS1564845068 LGI1 Health Risk Pathogenic Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features
RS1564847101 HPS1 Health Risk Pathogenic —
RS1564847357 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, EHMT1-related disorder
RS1564849558 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1564851314 LGI1 Health Risk Likely pathogenic Autosomal dominant epilepsy with auditory features, Inborn genetic diseases
RS1564854729 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1564855725 TPP1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis
RS1564855860 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1564864112 DCHS1 Health Risk Pathogenic —
RS1564865232 KCNJ11 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS1564865302 KCNJ11 Health Risk Likely pathogenic Maturity-onset diabetes of the young type 13, Maturity-onset diabetes of the young type 13
RS1564865337 DCHS1 Health Risk Likely pathogenic —
RS1564869850 ABCC8 Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Neonatal diabetes mellitus
RS1564872328 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2
RS1564873187 CNNM2 Health Risk Pathogenic Hypomagnesemia, seizures
RS1564874257 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS1564874813 HBB Health Risk Pathogenic/Likely pathogenic beta Thalassemia, beta Thalassemia
RS1564874901 HBB Health Risk Pathogenic/Likely pathogenic Hemoglobinopathy, beta Thalassemia
RS1564875128 HBB Health Risk Pathogenic/Likely pathogenic —
RS1564875145 HBB Health Risk Pathogenic —
RS1564875331 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1564875577 FGFR2 Health Risk Likely pathogenic —
RS1564875707 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS1564886323 KCNQ1 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS1564886349 KCNQ1 Health Risk Likely pathogenic Long QT syndrome 1, Long QT syndrome 1
RS1564890766 ABCC8 Health Risk Conflicting classifications of pathogenicity Familial hyperinsulinism, Maturity-onset diabetes of the young
RS1564898910 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS1564899012 HPS6 Health Risk Pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS1564899399 HPS6 Health Risk Pathogenic —
RS1564899492 HPS6 Health Risk Pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS1564899748 HPS6 Health Risk Pathogenic —
RS1564899888 HPS6 Health Risk Pathogenic HPS6-related disorder, HPS6-related disorder
RS1564899951 HPS6 Health Risk Pathogenic —
RS1564903969 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia type I, Citrullinemia
RS1564905676 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1564911425 INS Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 10, Neonatal insulin-dependent diabetes mellitus
RS1564912274 INS Health Risk Likely pathogenic Neonatal diabetes mellitus, Neonatal diabetes mellitus
RS1564912403 INS Health Risk Likely risk allele Permanent neonatal diabetes mellitus, Neonatal insulin-dependent diabetes mellitus
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