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
RS2149704635 NIPBL Health Risk Pathogenic/Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149706056 NIPBL Health Risk Pathogenic —
RS2149707525 ADGRV1 Health Risk Likely pathogenic —
RS2149709684 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2149709686 EYS Health Risk Pathogenic —
RS2149709778 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2149710327 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149711192 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149711198 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2149711589 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149711923 APC Health Risk Pathogenic/Likely pathogenic Familial multiple polyposis syndrome, Hereditary cancer-predisposing syndrome
RS2149712600 APC Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS2149712622 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149712663 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS2149713021 COL4A4 Health Risk Pathogenic —
RS2149713086 COL4A4 Health Risk Likely pathogenic —
RS2149713200 COL4A4 Health Risk Pathogenic —
RS2149713829 COL4A4 Health Risk Pathogenic —
RS2149715284 COL4A4 Health Risk Pathogenic —
RS2149715612 ADGRV1 Health Risk Likely pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS2149718188 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149719615 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS2149720690 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Alport syndrome
RS2149720724 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Benign familial hematuria
RS2149721379 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149721417 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149721484 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149721718 COL4A4 Health Risk Pathogenic/Likely pathogenic Benign familial hematuria, Autosomal recessive Alport syndrome
RS2149722710 ADGRV1 Health Risk Pathogenic —
RS2149722718 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Benign familial hematuria
RS2149722771 ADGRV1 Health Risk Pathogenic —
RS2149722809 COL4A4 Health Risk Likely pathogenic —
RS2149726948 CTNNA1 Health Risk Pathogenic —
RS2149729461 WDFY3 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2149730828 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149730953 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149732594 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149736508 CTNNA1 Health Risk Pathogenic —
RS2149736690 CTNNA1 Health Risk Pathogenic —
RS2149736920 CTNNA1 Health Risk Likely pathogenic —
RS2149737037 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Inborn genetic diseases
RS2149737108 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, NIPBL-related disorder
RS2149737142 NIPBL Health Risk Likely pathogenic —
RS2149737162 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149737434 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2149737581 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149737591 TBCK Health Risk Pathogenic Hypotonia, infantile
RS2149737617 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149741447 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149741483 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149741562 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149742261 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149743261 COL4A4 Health Risk Likely pathogenic —
RS2149743538 COL4A4 Health Risk Pathogenic Disease of glomerular basement membrane, Disease of glomerular basement membrane
RS2149743813 COL4A4 Health Risk Pathogenic —
RS2149743833 ADGRV1 Health Risk Pathogenic —
RS2149744042 COL4A4 Health Risk Pathogenic —
RS2149744290 ADGRV1 Health Risk Pathogenic —
RS2149745228 COL4A4 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS2149750114 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149752967 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149755613 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149755630 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149755687 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149757050 NSD1 Health Risk Pathogenic —
RS2149757179 NSD1 Health Risk Pathogenic —
RS2149759954 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149761269 NIPBL Health Risk Pathogenic —
RS2149761277 NIPBL Health Risk Pathogenic —
RS2149761303 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149761324 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149762145 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149762252 APC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149762337 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149762370 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149762397 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149762484 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149762899 APC Health Risk Conflicting classifications of pathogenicity Classic or attenuated familial adenomatous polyposis, Familial adenomatous polyposis 1
RS2149763411 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149763989 COL4A4 Health Risk Pathogenic —
RS2149767574 LTBP1 Health Risk Pathogenic Cutis laxa, autosomal recessive
RS2149767732 APC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2149776199 CTNNA1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2149778856 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2149778946 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149778990 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial multiple polyposis syndrome
RS2149779431 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149779754 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149780373 APC Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS2149780462 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149780840 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149781233 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149781278 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2149781488 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149781846 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149782151 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149782311 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149782519 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149782982 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS2149783185 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
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