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
RS1748456663 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1748461171 TERT Health Risk Pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1748527879 ERCC8 Health Risk Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS1748531932 ERCC8 Health Risk Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS1748532789 HSD17B4 Health Risk Likely pathogenic —
RS1748533233 ERCC8 Health Risk Pathogenic —
RS17485436 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS1748583571 NAA15 Health Risk Pathogenic —
RS1748613384 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1748613571 TERT Health Risk Pathogenic/Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1748618030 TERT Health Risk Likely pathogenic —
RS1748663758 TRIO Health Risk Pathogenic —
RS1748694912 MTRR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS1748783254 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1748786633 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS1748819276 ERCC8 Health Risk Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS1748834145 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS1748845774 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS1748929695 ERCC8 Health Risk Pathogenic —
RS1748943719 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, Sandhoff disease
RS1748946273 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS1748946983 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS1748947002 ADGRV1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1748964402 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1748966825 ERCC8 Health Risk Pathogenic/Likely pathogenic UV-sensitive syndrome 2, Cockayne syndrome type 1
RS1748969681 ERCC8 Health Risk Pathogenic —
RS1749003568 TERT Health Risk Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1749022593 ERCC8 Health Risk Pathogenic —
RS1749049871 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS1749089374 TERT Health Risk Likely pathogenic Dyskeratosis congenita, autosomal dominant 2
RS1749098222 TERT Health Risk Likely pathogenic —
RS1749120310 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS1749127843 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS1749130074 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS1749130533 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS1749130818 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS1749186228 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS1749189749 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1749202438 CHD1 Health Risk Conflicting classifications of pathogenicity Pilarowski-Bjornsson syndrome, Pilarowski-Bjornsson syndrome
RS1749219575 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS1749220884 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS1749285874 MSH3 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS1749285930 MSH3 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS1749285992 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1749286503 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS1749286902 MSH3 Health Risk Pathogenic —
RS1749288232 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS1749288569 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS1749289926 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1749359626 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS1749440512 SMN1 Health Risk Likely pathogenic Werdnig-Hoffmann disease, Werdnig-Hoffmann disease
RS1749441633 SMN1 Health Risk Likely pathogenic Kugelberg-Welander disease, Kugelberg-Welander disease
RS1749485242 ADGRV1 Health Risk Pathogenic/Likely pathogenic ADGRV1-related disorder, ADGRV1-related disorder
RS1749495521 ERCC8 Health Risk Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS1749497228 ERCC8 Health Risk Pathogenic/Likely pathogenic UV-sensitive syndrome 2, Cockayne syndrome type 1
RS1749540054 MSH3 Health Risk Likely pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS1749541157 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1749542213 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1749544783 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1749604779 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS17496130 CDK13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1749617646 ERCC8 Health Risk Pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS1749618632 ERCC8 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 1, UV-sensitive syndrome 2
RS1749651392 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS1749651571 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS1749652247 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS1749652995 HEXB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sandhoff disease
RS1749664308 MSH3 Health Risk Likely pathogenic —
RS1749670424 MSH3 Health Risk Pathogenic —
RS1749670835 MSH3 Health Risk Pathogenic —
RS1749671918 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1749673003 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1749674216 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS1749675199 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1749675730 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1749676068 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS1749680051 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS1749713036 FBN2 Health Risk Pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1749739420 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1749739842 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS1749751668 MSH3 Health Risk Pathogenic —
RS1749751715 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS1749753063 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1749753402 MSH3 Health Risk Pathogenic —
RS1749776954 SMN1 Health Risk Likely pathogenic Werdnig-Hoffmann disease, Werdnig-Hoffmann disease
RS1749780301 TERT Health Risk Likely pathogenic Dyskeratosis congenita, autosomal dominant 2
RS17497857 BMAL2 Health Risk association Pulmonary disease, chronic obstructive
RS1749799292 TERT Health Risk Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1749799813 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1749803258 HEXB Health Risk Pathogenic Sandhoff disease, Sandhoff disease
RS1749809581 MSH3 Health Risk Pathogenic —
RS1749810683 WDFY3 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS1749812910 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, Sandhoff disease
RS1749828987 ERCC8 Health Risk Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS1749840545 TERT Health Risk Likely pathogenic Dyskeratosis congenita, autosomal dominant 2
RS1749847524 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS1749852602 TERT Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS1749873891 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1749878115 HSD17B4 Health Risk Pathogenic/Likely pathogenic Perrault syndrome 1, Perrault syndrome
RS1749906415 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
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