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
RS2471123696 MLH1 Health Risk Pathogenic/Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471123727 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471123795 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS2471123825 FLNB Health Risk Likely pathogenic —
RS2471124397 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2471124556 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471124645 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2471124959 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2471124965 FLNB Health Risk Pathogenic —
RS2471125451 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471125713 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471125830 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471125892 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471126138 MLH1 Health Risk Pathogenic/Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471126278 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471127773 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471127803 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471127896 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471128349 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2471128631 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471128935 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471130996 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471131093 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS2471131221 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471131273 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471131439 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471131635 FLNB Health Risk Pathogenic —
RS2471131726 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471132512 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471132543 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471132640 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471133097 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471133774 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471134516 UNC80 Health Risk Pathogenic —
RS2471134885 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471135131 FLNB Health Risk Likely pathogenic —
RS2471142150 UNC80 Health Risk Pathogenic —
RS2471145374 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2471145430 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2471145466 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2471145574 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2471146082 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2471146213 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2471146274 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2471146370 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2471148332 CACNA2D2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2471148791 UNC80 Health Risk Pathogenic —
RS2471150164 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2471150314 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2471150370 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2471150599 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 2
RS2471150601 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2471151025 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2471151168 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2471154038 UNC80 Health Risk Pathogenic —
RS2471154253 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2471154458 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2471154855 FLNB Health Risk Likely pathogenic —
RS2471157408 UNC80 Health Risk Pathogenic —
RS2471158020 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 2
RS2471158260 AMT Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS2471160357 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2471160420 AMT Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 2
RS2471160480 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2471161029 FLNB Health Risk Likely pathogenic Larsen syndrome, Larsen syndrome
RS2471161142 AMT Health Risk Pathogenic —
RS2471161209 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2471161355 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2471161813 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2471162355 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2471165001 FLNB Health Risk Pathogenic —
RS2471166154 UNC80 Health Risk Likely pathogenic —
RS2471167931 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2471169863 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2471173321 FLNB Health Risk Likely pathogenic Spondylocarpotarsal synostosis syndrome, Spondylocarpotarsal synostosis syndrome
RS2471174164 TRIP12 Health Risk Pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS2471175808 MLH1 Health Risk Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471176344 TRIP12 Health Risk Likely pathogenic —
RS2471177072 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2471177667 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2471177888 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471177947 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471178193 MLH1 Health Risk Likely pathogenic MLH1-related disorder, MLH1-related disorder
RS2471178478 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471178941 MLH1 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Inherited MMR deficiency (Lynch syndrome)
RS2471179260 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471179878 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471180159 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471180389 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471180465 UNC80 Health Risk Likely pathogenic Hypotonia, infantile
RS2471181009 MLH1 Health Risk Pathogenic Endometrial carcinoma, Endometrial carcinoma
RS2471181256 TRIP12 Health Risk Pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS2471182925 DNAH1 Health Risk Likely pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS2471183536 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colon cancer
RS2471183629 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471184590 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471184850 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471185030 TKT Health Risk Likely pathogenic Transketolase deficiency, Transketolase deficiency
RS2471185646 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471186325 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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