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
RS2495817866 TH Health Risk Pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS2495817973 TH Health Risk Pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS2495820282 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS2495820510 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS2495821318 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS2495821664 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS2495822166 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS2495828312 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS2495829167 TH Health Risk Pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS2495829839 TH Health Risk Pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS2495830146 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2495830212 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2495830435 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS2495830511 TH Health Risk Pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS2495830848 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2495830952 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS2495836141 TH Health Risk Pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS2495836165 TH Health Risk Pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS2495836407 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS2495836626 TH Health Risk Pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS2495842209 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS2495842783 TH Health Risk Pathogenic/Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS2495847870 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2495858678 SPTBN2 Health Risk Pathogenic/Likely pathogenic —
RS2495859707 DNAJB13 Health Risk Pathogenic Primary ciliary dyskinesia 34, Primary ciliary dyskinesia 34
RS2495860648 SPTBN2 Health Risk Pathogenic Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5
RS2495861105 MPDZ Health Risk Pathogenic/Likely pathogenic Hydrocephalus, nonsyndromic
RS2495862131 DNAJB13 Health Risk Likely pathogenic —
RS2495862536 EED Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2495864907 FZD4 Health Risk Pathogenic —
RS2495864953 FZD4 Health Risk Pathogenic —
RS2495865692 FZD4 Health Risk Pathogenic/Likely pathogenic —
RS2495865897 FZD4 Health Risk Likely pathogenic —
RS2495866103 FZD4 Health Risk Pathogenic Exudative vitreoretinopathy 1, Exudative vitreoretinopathy 1
RS2495866336 FZD4 Health Risk Pathogenic —
RS2495867343 FZD4 Health Risk Pathogenic —
RS2495867469 FZD4 Health Risk Pathogenic —
RS2495867722 FZD4 Health Risk Likely pathogenic Exudative vitreoretinopathy 1, Exudative vitreoretinopathy 1
RS2495867978 FZD4 Health Risk Pathogenic —
RS2495868177 FZD4 Health Risk Pathogenic —
RS2495868322 FZD4 Health Risk Pathogenic —
RS2495869022 FZD4 Health Risk Pathogenic —
RS2495869044 FZD4 Health Risk Pathogenic —
RS2495874029 FZD4 Health Risk Pathogenic Exudative vitreoretinopathy 1, Exudative vitreoretinopathy 1
RS2495874143 FZD4 Health Risk Pathogenic —
RS2495874344 FZD4 Health Risk Pathogenic Exudative vitreoretinopathy 1, Exudative vitreoretinopathy 1
RS2495874556 FZD4 Health Risk Pathogenic —
RS2495874844 FZD4 Health Risk Pathogenic —
RS2495875075 FZD4 Health Risk Pathogenic —
RS2495875214 FZD4 Health Risk Pathogenic —
RS2495876442 EED Health Risk Pathogenic Cohen-Gibson syndrome, Cohen-Gibson syndrome
RS2495896900 PGM2L1 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, dysmorphic facies
RS2495900037 PGM2L1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2495905933 PGM2L1 Health Risk Pathogenic —
RS2495911542 ANK2 Health Risk Conflicting classifications of pathogenicity Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS2495912386 ANK2 Health Risk Likely pathogenic —
RS2495918382 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2495930049 IGHMBP2 Health Risk Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Autosomal recessive distal spinal muscular atrophy 1
RS2495932389 PLCE1 Health Risk Likely pathogenic PLCE1-related disorder, PLCE1-related disorder
RS2495942854 IGHMBP2 Health Risk Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Autosomal recessive distal spinal muscular atrophy 1
RS2495943651 ERCC6 Health Risk Likely pathogenic Cockayne syndrome, Cockayne syndrome
RS2495943969 ERCC6 Health Risk Pathogenic —
RS2495946797 ERCC6 Health Risk Pathogenic —
RS2495946863 SPTBN2 Health Risk Likely pathogenic —
RS2495946873 ERCC6 Health Risk Pathogenic —
RS2495946942 ERCC6 Health Risk Likely pathogenic —
RS2495949203 ERCC6 Health Risk Likely pathogenic —
RS2495949807 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2495949965 ERCC6 Health Risk Pathogenic —
RS2495950095 IGHMBP2 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS2495950157 ERCC6 Health Risk Likely pathogenic —
RS2495950864 IGHMBP2 Health Risk Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2495950893 IGHMBP2 Health Risk Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2495951071 MYPN Health Risk Pathogenic/Likely pathogenic MYPN-related disorder, Dilated cardiomyopathy 1KK
RS2495951376 MYPN Health Risk Likely pathogenic —
RS2495951388 MYPN Health Risk Pathogenic Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK
RS2495952128 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS2495955585 SPTBN2 Health Risk Pathogenic —
RS2495964456 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2495964905 IGHMBP2 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS2495965520 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS2495965716 MYPN Health Risk Pathogenic Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK
RS2495966748 DNAJB13 Health Risk Likely pathogenic Primary ciliary dyskinesia 34, Primary ciliary dyskinesia 34
RS2495966840 MYPN Health Risk Pathogenic Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK
RS2495967037 SCYL1 Health Risk Pathogenic Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
RS2495969092 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS2495970278 ERCC6 Health Risk Pathogenic —
RS2495970325 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2495970774 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2495970791 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2495971037 ERCC6 Health Risk Pathogenic —
RS2495971049 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2495971159 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2495971341 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2495971762 ERCC6 Health Risk Pathogenic —
RS2495971782 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2495971838 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS2495971965 ERCC6 Health Risk Pathogenic —
RS2495971978 ERCC6 Health Risk Pathogenic —
RS2495972164 ERCC6 Health Risk Pathogenic —
« Prev 1 ... 2144 2145 2146 2147 2148 2149 2150 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →