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
RS2149837822 RAD50 Health Risk Likely pathogenic Nijmegen breakage syndrome-like disorder, Nijmegen breakage syndrome-like disorder
RS2149837954 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149838065 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149840475 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149840516 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149840595 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149840692 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149840693 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS2149840715 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149840720 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS2149840729 APC Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS2149840797 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149841026 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149841054 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149841198 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149841450 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149841496 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149841530 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149841547 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149841568 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149841600 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149841625 APC Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS2149841665 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149841774 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149842089 PHF8 Health Risk Likely pathogenic —
RS2149842095 APC Health Risk Pathogenic —
RS2149842140 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149842173 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149842183 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149842275 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149842334 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149842421 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149842659 NSD1 Health Risk Likely pathogenic —
RS2149842674 NSD1 Health Risk Conflicting classifications of pathogenicity —
RS2149842678 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149842688 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149842746 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149842963 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149843371 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149843526 LMBRD1 Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS2149843532 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149843640 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2149843695 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149843709 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149843762 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149843770 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149844090 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149844111 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149844146 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149844298 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149844461 NSD1 Health Risk Pathogenic —
RS2149844541 LMBRD1 Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS2149844646 APC Health Risk Pathogenic Familial multiple polyposis syndrome, Familial adenomatous polyposis 1
RS2149844773 NSD1 Health Risk Pathogenic —
RS2149845009 HARS1 Health Risk Likely pathogenic Autosomal dominant Charcot-Marie-Tooth disease type 2W, Autosomal dominant Charcot-Marie-Tooth disease type 2W
RS2149845831 NSD1 Health Risk Pathogenic —
RS2149845949 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS2149846018 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS2149846283 NSD1 Health Risk Pathogenic —
RS2149846650 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS2149846817 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS2149846839 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149846856 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149846873 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149846876 NSD1 Health Risk Likely pathogenic Sotos syndrome, Sotos syndrome
RS2149846924 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS2149846942 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149846959 NSD1 Health Risk Pathogenic —
RS2149847228 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149847258 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS2149847267 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149847342 RAD50 Health Risk Pathogenic Nijmegen breakage syndrome-like disorder, Nijmegen breakage syndrome-like disorder
RS2149847704 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149847729 NSD1 Health Risk Pathogenic —
RS2149847772 RAD50 Health Risk Pathogenic Nijmegen breakage syndrome-like disorder, Hereditary cancer-predisposing syndrome
RS2149847798 NSD1 Health Risk Pathogenic —
RS2149847837 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149847849 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149847862 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149848202 NSD1 Health Risk Pathogenic Non-immune hydrops fetalis, Non-immune hydrops fetalis
RS2149848219 NSD1 Health Risk Likely pathogenic —
RS2149849204 NSD1 Health Risk Pathogenic —
RS2149849285 NSD1 Health Risk Pathogenic —
RS2149849417 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149849418 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149849472 EYS Health Risk Pathogenic —
RS2149849538 EYS Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2149849545 EYS Health Risk Pathogenic —
RS2149849685 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149849841 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149849846 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149852637 COL4A4 Health Risk Pathogenic —
RS2149852789 HARS2 Health Risk Likely pathogenic Perrault syndrome 2, Perrault syndrome 2
RS2149852923 COL4A4 Health Risk Pathogenic —
RS2149852927 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149852945 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149852978 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149853830 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149853889 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149853930 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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