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
RS2149783277 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2149783399 APC Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS2149783521 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS2149783796 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149783845 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS2149783907 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149784543 APC Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS2149784571 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149784873 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149785390 CTNNA1 Health Risk Likely pathogenic —
RS2149786031 CTNNA1 Health Risk Likely pathogenic —
RS2149786068 CTNNA1 Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS2149787552 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS2149787843 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149788254 APC Health Risk Pathogenic Familial multiple polyposis syndrome, Familial adenomatous polyposis 1
RS2149788271 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2149788328 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS2149788717 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149788724 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149789411 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149789500 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149789815 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149791679 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2149791774 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149791883 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149792238 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2149792567 APC Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS2149792705 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149792825 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149794528 ADGRV1 Health Risk Pathogenic —
RS2149794988 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149797551 ADGRV1 Health Risk Pathogenic —
RS2149797559 ADGRV1 Health Risk Pathogenic/Likely pathogenic —
RS2149797737 ADGRV1 Health Risk Pathogenic —
RS2149798268 BAZ2B Health Risk Likely pathogenic BAZ2B-related Neurodevelopmental disorder, BAZ2B-related Neurodevelopmental disorder
RS2149802264 EYS Health Risk Pathogenic —
RS2149802267 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS2149802318 EYS Health Risk Pathogenic —
RS2149808371 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Desmoid disease
RS2149809361 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2149809585 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149809668 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149809839 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial multiple polyposis syndrome
RS2149810193 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149812994 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149813051 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2149813062 APC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2149813083 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2149813186 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149813289 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149813390 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149813460 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149813858 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149813938 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS2149813944 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Gastric cancer
RS2149816948 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149816966 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149817124 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149818305 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149818599 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149818637 APC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2149818882 ADGRV1 Health Risk Pathogenic —
RS2149821358 NSD1 Health Risk Pathogenic —
RS2149830069 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149830102 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149830204 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149830870 EYS Health Risk Pathogenic —
RS2149830904 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2149830970 EYS Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2149830976 EYS Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2149830992 EYS Health Risk Pathogenic —
RS2149831000 EYS Health Risk Pathogenic —
RS2149831198 EYS Health Risk Pathogenic —
RS2149831267 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149831278 EYS Health Risk Pathogenic —
RS2149831280 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149831487 EYS Health Risk Pathogenic —
RS2149831647 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2149831757 EYS Health Risk Pathogenic —
RS2149831862 EYS Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2149832027 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2149832043 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2149832355 EYS Health Risk Pathogenic —
RS2149832474 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2149832523 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinal dystrophy
RS2149832585 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2149833264 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2149833339 EYS Health Risk Pathogenic —
RS2149833352 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2149836062 NSD1 Health Risk Pathogenic/Likely pathogenic Sotos syndrome, Sotos syndrome
RS2149836269 NSD1 Health Risk Pathogenic —
RS2149836382 NSD1 Health Risk Pathogenic —
RS2149836428 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149836460 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149837697 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149837730 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149837742 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149837756 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149837777 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149837821 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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