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
RS1064794919 CDKL5 Health Risk Likely pathogenic —
RS1064794921 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064794925 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1064794927 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064794928 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064794929 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS1064794930 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1064794932 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1064794935 KIF1A Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS1064794937 CASK Health Risk Pathogenic —
RS1064794938 CACNA1D Health Risk Likely pathogenic —
RS1064794939 MED13L Health Risk Likely pathogenic —
RS1064794940 TUBB3 Health Risk Likely pathogenic —
RS1064794941 LAMA2 Health Risk Likely pathogenic —
RS1064794943 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064794946 GJB3 Health Risk Likely pathogenic —
RS1064794947 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064794951 VHL Health Risk Likely pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS1064794955 STAT1 Health Risk Likely pathogenic —
RS1064794956 POLR1A Health Risk Conflicting classifications of pathogenicity Acrofacial dysostosis Cincinnati type, Acrofacial dysostosis Cincinnati type
RS1064794957 STAT3 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inherited Immunodeficiency Diseases
RS1064794958 COL2A1 Health Risk Likely pathogenic Kniest dysplasia, Kniest dysplasia
RS1064794960 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064794961 EBF3 Health Risk Pathogenic Inborn genetic diseases, Hypotonia
RS1064794963 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Menke-Hennekam syndrome 1
RS1064794965 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1064794966 LMNA Health Risk Pathogenic —
RS1064794967 HNRNPK Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1064794968 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064794969 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064794970 LRP6 Health Risk Pathogenic —
RS1064794972 COL5A1 Health Risk Likely pathogenic —
RS1064794973 PHKA1 Health Risk Likely pathogenic —
RS1064794975 PTEN Health Risk Conflicting classifications of pathogenicity Cowden syndrome 1, Cowden syndrome 1
RS1064794978 PLEC Health Risk Conflicting classifications of pathogenicity —
RS1064794979 GRIN2B Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 6
RS1064794980 MYH3 Health Risk Likely pathogenic —
RS1064794981 SLC6A1 Health Risk Likely pathogenic Neurodevelopmental delay, Epilepsy with myoclonic atonic seizures
RS1064794982 TTN Health Risk Likely pathogenic —
RS1064794983 KRT14 Health Risk Likely pathogenic —
RS1064794987 GRIN1 Health Risk Likely pathogenic —
RS1064794992 ANKRD11 Health Risk Likely pathogenic —
RS1064794993 DDX3X Health Risk Conflicting classifications of pathogenicity DDX3X-related X-linked intellectual disability, DDX3X-related X-linked intellectual disability
RS1064794996 GABRB2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Developmental and epileptic encephalopathy 92
RS1064794999 PHEX Health Risk Pathogenic —
RS1064795000 AHDC1 Health Risk Pathogenic —
RS1064795001 UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS1064795003 RPS6KA3 Health Risk Likely pathogenic —
RS1064795005 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1064795006 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1064795008 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064795012 UBE3A Health Risk Likely pathogenic Angelman syndrome, Inborn genetic diseases
RS1064795013 KCNT1 Health Risk Likely pathogenic —
RS1064795014 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1064795016 SH3TC2 Health Risk Conflicting classifications of pathogenicity SH3TC2-related disorder, SH3TC2-related disorder
RS1064795018 SCN2A Health Risk Likely pathogenic —
RS1064795023 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1064795024 SIM1 Health Risk Likely pathogenic —
RS1064795031 OPHN1 Health Risk Pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS1064795032 MYBPC1 Health Risk Likely pathogenic —
RS1064795033 KDM6A Health Risk Likely pathogenic —
RS1064795037 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1064795039 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064795043 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064795044 CDH23 Health Risk Pathogenic —
RS1064795045 RAD51D Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS1064795046 CHRNA1 Health Risk Likely pathogenic —
RS1064795047 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS1064795048 KCNB1 Health Risk Likely pathogenic —
RS1064795049 SMC1A Health Risk Pathogenic —
RS1064795050 CREBBP Health Risk Likely pathogenic —
RS1064795056 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1064795057 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1064795058 KCNQ2 Health Risk Pathogenic —
RS1064795059 NSD1 Health Risk Likely pathogenic —
RS1064795060 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1064795062 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia 11
RS1064795063 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064795067 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064795068 MED13L Health Risk Likely pathogenic —
RS1064795069 FOXP3 Health Risk Likely pathogenic —
RS1064795070 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1064795072 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064795074 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1064795075 ACTA1 Health Risk Likely pathogenic —
RS1064795076 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064795077 HSPB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease axonal type 2F
RS1064795078 SCN1A Health Risk Pathogenic —
RS1064795080 ZNF469 Health Risk Pathogenic/Likely pathogenic —
RS1064795083 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064795085 SCN5A Health Risk Pathogenic/Likely pathogenic —
RS1064795088 RBM10 Health Risk Likely pathogenic —
RS1064795089 CREBBP Health Risk Likely pathogenic —
RS1064795090 ATRX Health Risk Pathogenic —
RS1064795091 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064795098 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1064795099 SLC6A1 Health Risk Pathogenic Marfanoid habitus and intellectual disability, Epilepsy with myoclonic atonic seizures
RS1064795100 TBL1XR1 Health Risk Likely pathogenic —
RS1064795101 NHS Health Risk Conflicting classifications of pathogenicity Nance-Horan syndrome, Nance-Horan syndrome
RS1064795103 PHF6 Health Risk Likely pathogenic —
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