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
RS2527506327 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2527508309 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2527520886 KDM5B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2527528620 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527531235 USH2A Health Risk Likely pathogenic —
RS2527531294 USH2A Health Risk Pathogenic —
RS2527531330 USH2A Health Risk Pathogenic —
RS2527531361 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2527531515 USH2A Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS2527531520 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome, Usher syndrome
RS2527531653 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2527531679 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527531929 LYST Health Risk Pathogenic/Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527534967 ACTN2 Health Risk Likely pathogenic Intrinsic cardiomyopathy, Intrinsic cardiomyopathy
RS2527535553 KDM5B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2527535804 KDM5B Health Risk Likely pathogenic Intellectual disability, autosomal recessive 65
RS2527536329 KDM5B Health Risk Pathogenic —
RS2527542588 KDM5B Health Risk Pathogenic —
RS2527549383 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527550514 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527550732 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527551269 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527554204 USH2A Health Risk Pathogenic —
RS2527554344 USH2A Health Risk Pathogenic —
RS2527554353 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS2527554359 USH2A Health Risk Pathogenic Usher syndrome, Usher syndrome
RS2527554370 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527554411 USH2A Health Risk Pathogenic —
RS2527554452 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527554548 ZBTB18 Health Risk Likely pathogenic Developmental delay, Developmental delay
RS2527555293 ZBTB18 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 22
RS2527555688 ZBTB18 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 22
RS2527557571 ZBTB18 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 22
RS2527557595 ZBTB18 Health Risk Pathogenic Intellectual disability, autosomal dominant 22
RS2527557851 ZBTB18 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 22
RS2527559024 ZBTB18 Health Risk Pathogenic —
RS2527559893 LYST Health Risk Pathogenic/Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527560158 ZBTB18 Health Risk Pathogenic Intellectual disability, autosomal dominant 22
RS2527560402 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527561061 ZBTB18 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 22
RS2527561247 ZBTB18 Health Risk Likely pathogenic —
RS2527561443 ZBTB18 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 22
RS2527561485 ZBTB18 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 22
RS2527561619 ZBTB18 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 22
RS2527561750 ZBTB18 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 22
RS2527564762 KIF14 Health Risk Likely pathogenic Microcephaly 20, primary
RS2527564859 USH2A Health Risk Pathogenic —
RS2527565001 KDM5B Health Risk Likely pathogenic Intellectual disability, autosomal recessive 65
RS2527565074 KDM5B Health Risk Likely pathogenic KDM5B-related disorder, KDM5B-related disorder
RS2527565081 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527565495 KIF14 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS2527574499 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS2527575471 SKI Health Risk Pathogenic Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome
RS2527576538 KDM5B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2527583101 KDM5B Health Risk Likely pathogenic —
RS2527584557 ARV1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2527587918 FASLG Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2527596188 KIDINS220 Health Risk Pathogenic Ventriculomegaly and arthrogryposis, Ventriculomegaly and arthrogryposis
RS2527599063 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Dilated cardiomyopathy 1AA
RS2527606158 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS2527606344 USH2A Health Risk Pathogenic —
RS2527606425 USH2A Health Risk Pathogenic —
RS2527606430 USH2A Health Risk Pathogenic —
RS2527612631 COG2 Health Risk Pathogenic Congenital disorder of glycosylation, type IIq
RS2527614713 ACTN2 Health Risk Likely pathogenic Dilated cardiomyopathy 1AA, Dilated cardiomyopathy 1AA
RS2527616593 GALNT2 Health Risk Likely pathogenic —
RS2527616848 KIDINS220 Health Risk Pathogenic Spastic paraplegia, intellectual disability
RS2527618828 USH2A Health Risk Conflicting classifications of pathogenicity —
RS2527618864 USH2A Health Risk Pathogenic —
RS2527618865 USH2A Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS2527619261 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS2527619264 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527619379 USH2A Health Risk Likely pathogenic —
RS2527622353 LYST Health Risk Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS2527622381 USH2A Health Risk Likely pathogenic —
RS2527622613 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527622805 USH2A Health Risk Pathogenic —
RS2527622873 USH2A Health Risk Pathogenic —
RS2527624286 ARV1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 38
RS2527624366 ARV1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 38
RS2527625216 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2527625308 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2527625515 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS2527627635 KDM5B Health Risk Pathogenic Intellectual disability, autosomal recessive 65
RS2527627970 KDM5B Health Risk Likely pathogenic Intellectual disability, autosomal recessive 65
RS2527635636 KDM5B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2527645980 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2527645998 USH2A Health Risk Pathogenic —
RS2527646389 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2527646544 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2527646571 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis
RS2527647145 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2527647307 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS2527647377 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS2527651949 KDM5B Health Risk Likely pathogenic —
RS2527652567 WDR35 Health Risk Pathogenic Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS2527653482 USH2A Health Risk Conflicting classifications of pathogenicity —
RS2527653911 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2527654049 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2527654082 USH2A Health Risk Pathogenic —
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