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
RS2149616433 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149619973 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149621638 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149623398 EYS Health Risk Pathogenic —
RS2149623546 EYS Health Risk Pathogenic —
RS2149623597 EYS Health Risk Pathogenic —
RS2149623641 EYS Health Risk Pathogenic —
RS2149623736 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2149624154 EYS Health Risk Pathogenic —
RS2149624477 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS2149624499 EYS Health Risk Pathogenic —
RS2149624513 EYS Health Risk Pathogenic —
RS2149624530 EYS Health Risk Conflicting classifications of pathogenicity —
RS2149624568 EYS Health Risk Pathogenic —
RS2149624828 EYS Health Risk Pathogenic —
RS2149624980 EYS Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2149625000 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2149625031 EYS Health Risk Pathogenic —
RS2149625125 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2149625483 EYS Health Risk Pathogenic —
RS2149625502 EYS Health Risk Pathogenic —
RS2149625531 EYS Health Risk Pathogenic —
RS2149626924 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149628965 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149629086 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149631759 EYS Health Risk Likely pathogenic —
RS2149631777 EYS Health Risk Pathogenic —
RS2149631831 EYS Health Risk Pathogenic —
RS2149631907 EYS Health Risk Pathogenic —
RS2149632857 ADGRV1 Health Risk Pathogenic —
RS2149638830 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS2149640280 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149640346 APC Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS2149640773 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2149640827 ADGRV1 Health Risk Pathogenic —
RS2149642144 ADGRV1 Health Risk Pathogenic —
RS2149642220 ADGRV1 Health Risk Likely pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS2149642882 ADGRV1 Health Risk Pathogenic —
RS2149643267 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149643317 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149643596 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149643696 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149644023 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149644816 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149646411 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149646812 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149646884 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149646890 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149647035 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149651165 HINT1 Health Risk Pathogenic Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia
RS2149651722 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149651992 CTNNA1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2149654857 HINT1 Health Risk Likely pathogenic Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia
RS2149654884 HINT1 Health Risk Pathogenic Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia
RS2149655974 CTNNA1 Health Risk Likely pathogenic —
RS2149656252 CTNNA1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2149656665 CTNNA1 Health Risk Likely pathogenic Polyposis syndrome, hereditary mixed
RS2149656983 CTNNA1 Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS2149661882 LYRM7 Health Risk Likely pathogenic —
RS2149662539 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149664241 EYS Health Risk Pathogenic —
RS2149664330 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2149668942 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Inborn genetic diseases
RS2149669107 NIPBL Health Risk Likely pathogenic —
RS2149669144 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149670301 EYS Health Risk Pathogenic —
RS2149670355 EYS Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2149670368 EYS Health Risk Pathogenic —
RS2149670847 EYS Health Risk Pathogenic —
RS2149670871 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2149670951 EYS Health Risk Likely pathogenic —
RS2149672495 NIPBL Health Risk Pathogenic —
RS2149674650 BAZ2B Health Risk Likely pathogenic —
RS2149676839 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149678975 EYS Health Risk Pathogenic —
RS2149679279 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS2149679748 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149679784 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149679899 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149679978 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149680248 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2149680307 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149680574 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149680612 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149681441 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149681475 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149681631 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149682237 APC Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS2149682255 APC Health Risk Pathogenic —
RS2149684606 ADGRV1 Health Risk Pathogenic —
RS2149687811 ADGRV1 Health Risk Pathogenic/Likely pathogenic —
RS2149688682 NIPBL Health Risk Pathogenic —
RS2149690411 NEK1 Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS2149690678 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149692104 NIPBL Health Risk Likely pathogenic —
RS2149692821 ADGRV1 Health Risk Pathogenic —
RS2149696978 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149702380 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149704475 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS2149704501 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
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