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
RS1057523593 COL3A1 Health Risk Likely pathogenic —
RS1057523598 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
RS1057523601 CHD2 Health Risk Pathogenic —
RS1057523606 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1057523624 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1057523626 PIGA Health Risk Likely pathogenic —
RS1057523629 DSP Health Risk Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1057523636 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1057523641 KCNT1 Health Risk Likely pathogenic —
RS1057523647 TGFB3 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome
RS1057523651 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS1057523654 FBN1 Health Risk Likely pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
RS1057523680 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS1057523687 ALPK3 Health Risk Likely pathogenic —
RS1057523689 PEX3 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 10B, Peroxisome biogenesis disorder 10B
RS1057523690 PREPL Health Risk Likely pathogenic Myasthenic syndrome, congenital
RS1057523693 CLCN4 Health Risk Conflicting classifications of pathogenicity —
RS1057523696 SCN2A Health Risk Likely pathogenic —
RS1057523703 KCNA2 Health Risk Likely pathogenic —
RS1057523704 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1057523710 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1057523712 CHD8 Health Risk Likely pathogenic —
RS1057523727 TSC2 Health Risk Likely pathogenic —
RS1057523728 KCNQ2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 7
RS1057523731 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Long QT syndrome 3
RS1057523734 SCN2A Health Risk Likely pathogenic —
RS1057523736 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
RS1057523746 KIF5A Health Risk Likely pathogenic —
RS1057523747 AR Health Risk Pathogenic/Likely pathogenic Androgen resistance syndrome, Differences in sex development
RS1057523748 CASR Health Risk Likely pathogenic —
RS1057523749 IRF6 Health Risk Likely pathogenic —
RS1057523751 COL7A1 Health Risk Pathogenic —
RS1057523753 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS1057523755 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1057523761 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS1057523762 JAK3 Health Risk Pathogenic/Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS1057523764 COL4A2 Health Risk Conflicting classifications of pathogenicity —
RS1057523765 PITX1 Health Risk Likely pathogenic —
RS1057523785 ATRX Health Risk Pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Neoplasm
RS1057523786 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS1057523792 CAMTA1 Health Risk Likely pathogenic —
RS1057523796 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1057523807 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1057523819 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS1057523820 CASK Health Risk Likely pathogenic —
RS1057523821 PAX6 Health Risk Pathogenic/Likely pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1057523822 DDX3X Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1057523832 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1057523835 UBR1 Health Risk Likely pathogenic —
RS1057523836 SMARCA2 Health Risk Pathogenic —
RS1057523837 SLC39A4 Health Risk Pathogenic/Likely pathogenic Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS1057523839 DYNC1H1 Health Risk Likely pathogenic —
RS1057523840 IFT80 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 2, Asphyxiating thoracic dystrophy 2
RS1057523843 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1057523844 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1057523845 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1057523846 MYO6 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 37, Autosomal recessive nonsyndromic hearing loss 37
RS1057523854 RPS6KA3 Health Risk Likely pathogenic —
RS1057523855 SYNE1 Health Risk Conflicting classifications of pathogenicity —
RS1057523858 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1057523861 DNM1L Health Risk Pathogenic/Likely pathogenic —
RS1057523885 GALT Health Risk Conflicting classifications of pathogenicity —
RS1057523895 CACNA1F Health Risk Likely pathogenic —
RS1057523896 MEGF10 Health Risk Likely pathogenic —
RS1057523898 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1057523902 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 14
RS1057523906 MED12 Health Risk Pathogenic/Likely pathogenic FG syndrome 1, MED12-related disorder
RS1057523910 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1057523921 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS1057523928 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS1057523957 PIGN Health Risk Likely pathogenic —
RS1057523975 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1057523988 GJC2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hypomyelinating leukodystrophy 2
RS1057523990 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1057523999 SERAC1 Health Risk Pathogenic —
RS1057524000 SERAC1 Health Risk Likely pathogenic —
RS1057524002 EBF3 Health Risk Pathogenic —
RS1057524016 RP1 Health Risk Pathogenic —
RS1057524017 EYA4 Health Risk Pathogenic —
RS1057524025 SYNGAP1 Health Risk Pathogenic —
RS1057524031 NAA10 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Ogden syndrome
RS1057524033 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1057524037 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1057524041 SBF2 Health Risk Conflicting classifications of pathogenicity —
RS1057524042 BCL11A Health Risk Pathogenic —
RS1057524044 MTOR Health Risk Likely pathogenic Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS1057524046 LZTR1 Health Risk Conflicting classifications of pathogenicity —
RS1057524049 MTOR Health Risk Conflicting classifications of pathogenicity Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS1057524051 PURA Health Risk Likely pathogenic —
RS1057524052 NEDD4L Health Risk Conflicting classifications of pathogenicity —
RS1057524059 SCN2A Health Risk Pathogenic —
RS1057524076 ZBTB20 Health Risk Likely pathogenic —
RS1057524081 ATP8B1 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 1, Cholestasis
RS1057524089 GRIN2A Health Risk Pathogenic/Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1057524102 NIPBL Health Risk Likely pathogenic —
RS1057524103 MED13L Health Risk Likely pathogenic Intellectual disability, Inborn genetic diseases
RS1057524111 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1057524114 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, COL2A1-related disorder
RS1057524115 TRPV3 Health Risk Pathogenic —
RS1057524127 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
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