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
RS1064794071 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064794075 MSH6 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064794076 WAS Health Risk Pathogenic Thrombocytopenia 1, Wiskott-Aldrich syndrome
RS1064794083 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064794086 CYBB Health Risk Pathogenic —
RS1064794088 XRCC2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064794089 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064794092 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1064794095 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1064794096 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1064794098 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064794100 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064794102 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064794109 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064794110 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064794114 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1064794115 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064794117 PTCH1 Health Risk Pathogenic —
RS1064794121 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS1064794122 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS1064794125 OPA1 Health Risk Pathogenic —
RS1064794128 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1064794130 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1064794132 TSC1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS1064794133 DDX3X Health Risk Pathogenic —
RS1064794134 POGZ Health Risk Pathogenic —
RS1064794135 IKBKG Health Risk Pathogenic —
RS1064794137 EXT1 Health Risk Pathogenic —
RS1064794138 ZIC2 Health Risk Pathogenic —
RS1064794139 FBN1 Health Risk Pathogenic —
RS1064794140 FASTKD2 Health Risk Likely pathogenic Combined oxidative phosphorylation deficiency 44, Combined oxidative phosphorylation deficiency 44
RS1064794143 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1064794147 SCN1A Health Risk Pathogenic —
RS1064794149 PDHA1 Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS1064794150 PHEX Health Risk Pathogenic —
RS1064794151 ARID1A Health Risk Pathogenic —
RS1064794152 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064794155 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064794159 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064794160 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064794163 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1064794164 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS1064794165 ARG1 Health Risk Pathogenic Arginase deficiency, ARG1-related disorder
RS1064794166 ATM Health Risk Pathogenic —
RS1064794168 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1064794169 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1064794170 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064794173 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1064794177 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064794178 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1064794185 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064794190 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064794192 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1064794198 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064794202 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1064794204 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1064794205 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1064794206 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1064794207 PKD1 Health Risk Pathogenic —
RS1064794208 OPA1 Health Risk Pathogenic —
RS1064794209 MYBPC3 Health Risk Pathogenic —
RS1064794210 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1064794213 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS1064794214 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1064794216 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arterial disease, Cerebral arterial disease
RS1064794217 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1064794218 ENG Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS1064794219 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1064794220 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1064794221 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1064794223 DCX Health Risk Pathogenic Lissencephaly type 1 due to doublecortin gene mutation, Lissencephaly type 1 due to doublecortin gene mutation
RS1064794224 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Familial multiple polyposis syndrome
RS1064794225 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1064794226 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1064794228 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1064794229 APC Health Risk Pathogenic Carcinoma of colon, Hereditary cancer-predisposing syndrome
RS1064794230 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1064794232 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1064794233 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS1064794234 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1064794236 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1064794237 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064794239 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1064794240 ALDH7A1 Health Risk Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1064794241 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1064794242 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1064794243 SCN4A Health Risk Pathogenic/Likely pathogenic Hyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg
RS1064794244 GJB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS1064794247 GLMN Health Risk Pathogenic —
RS1064794248 CHD7 Health Risk Pathogenic —
RS1064794249 LGI1 Health Risk Likely pathogenic Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features
RS1064794250 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS1064794251 SCN1A Health Risk Pathogenic —
RS1064794252 SCN1A Health Risk Pathogenic —
RS1064794254 UPF3B Health Risk Pathogenic Syndromic X-linked intellectual disability 14, Syndromic X-linked intellectual disability 14
RS1064794255 PLP1 Health Risk Likely pathogenic —
RS1064794256 EIF2B5 Health Risk Pathogenic/Likely pathogenic Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 5
RS1064794257 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram syndrome 1, Optic atrophy
RS1064794258 CPS1 Health Risk Pathogenic/Likely pathogenic Pulmonary hypertension, neonatal
RS1064794259 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
« Prev 1 ... 108 109 110 111 112 113 114 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →