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
RS1064795855 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Long QT syndrome
RS1064795856 CACNA1A Health Risk Pathogenic Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 6
RS1064795860 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1064795861 APC Health Risk Pathogenic —
RS1064795862 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064795865 GJC2 Health Risk Pathogenic Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2
RS1064795867 GJC2 Health Risk Likely pathogenic —
RS1064795870 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1064795873 IKBKB Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
RS1064795878 CHD4 Health Risk Pathogenic —
RS1064795880 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064795881 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS1064795884 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064795885 ATM Health Risk Pathogenic/Likely pathogenic Malignant tumor of breast, Familial cancer of breast
RS1064795892 CHD3 Health Risk Pathogenic Snijders Blok-Campeau syndrome, Inborn genetic diseases
RS1064795894 NEB Health Risk Pathogenic —
RS1064795902 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1064795904 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1064795910 KNL1 Health Risk Likely pathogenic —
RS1064795912 HYDIN Health Risk Likely pathogenic —
RS1064795913 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064795914 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064795917 COL7A1 Health Risk Pathogenic —
RS1064795927 GALC Health Risk Likely pathogenic —
RS1064795930 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064795934 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064795935 COL4A1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1064795941 ALX4 Health Risk Pathogenic/Likely pathogenic —
RS1064795943 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS1064795945 ASPM Health Risk Pathogenic/Likely pathogenic Microcephaly 5, primary
RS1064795948 MEGF10 Health Risk Likely pathogenic —
RS1064795949 PHEX Health Risk Conflicting classifications of pathogenicity —
RS1064795950 RASA1 Health Risk Likely pathogenic —
RS1064795953 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1064795955 DBT Health Risk Likely pathogenic —
RS1064795959 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1064795960 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS1064795963 DSC2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS1064795966 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1064795967 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1064795969 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1064795970 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064795971 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS1064795975 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1064795976 NOTCH1 Health Risk Pathogenic —
RS1064795979 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS1064795980 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1064795981 POLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Progressive sclerosing poliodystrophy
RS1064795983 FLG Health Risk Pathogenic —
RS1064795991 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064795992 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064795999 STXBP1 Health Risk Pathogenic —
RS1064796000 KAT6B Health Risk Pathogenic —
RS1064796001 SETD5 Health Risk Likely pathogenic —
RS1064796002 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1064796008 RPS6KA3 Health Risk Pathogenic —
RS1064796010 ARID1A Health Risk Pathogenic —
RS1064796014 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1064796016 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1064796017 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1064796019 POMT2 Health Risk Pathogenic —
RS1064796020 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1064796021 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1064796023 CLCN4 Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 49
RS1064796026 BARD1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1064796028 TYR Health Risk Conflicting classifications of pathogenicity —
RS1064796030 PC Health Risk Likely pathogenic —
RS1064796031 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064796032 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1064796033 SYNGAP1 Health Risk Pathogenic —
RS1064796034 HIVEP2 Health Risk Pathogenic Intellectual disability, autosomal dominant 43
RS1064796037 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1
RS1064796043 KMT2D Health Risk Pathogenic —
RS1064796044 SCN2B Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS1064796046 KIF1A Health Risk Pathogenic —
RS1064796047 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064796049 SOX10 Health Risk Pathogenic/Likely pathogenic Waardenburg syndrome type 4C, Waardenburg syndrome type 4C
RS1064796051 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 5, Lynch syndrome 5
RS1064796054 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1064796055 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064796056 CREBBP Health Risk Likely pathogenic —
RS1064796057 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064796060 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1064796061 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064796062 CTCF Health Risk Pathogenic —
RS1064796067 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064796069 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1064796070 ACVRL1 Health Risk Pathogenic —
RS1064796071 CNTNAP2 Health Risk Likely pathogenic —
RS1064796072 BMPR1A Health Risk Pathogenic/Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1064796073 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064796077 NF1 Health Risk Pathogenic —
RS1064796078 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1064796080 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1064796081 NSD1 Health Risk Pathogenic —
RS1064796083 ATM Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1064796085 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS1064796087 SCN1A Health Risk Pathogenic —
RS1064796094 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS1064796095 KAT6B Health Risk Pathogenic —
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