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
RS2546047421 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546048023 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546048314 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546048657 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546048772 MFSD8 Health Risk Likely pathogenic —
RS2546049717 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2546060637 GMPPA Health Risk Pathogenic Alacrima, achalasia
RS2546061147 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2546061360 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2546061617 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2546061717 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2546073737 ACOX1 Health Risk Likely pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS2546074464 ACOX1 Health Risk Pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS2546074494 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2546074624 ACOX1 Health Risk Likely pathogenic Mitchell syndrome, Mitchell syndrome
RS2546074630 ACOX1 Health Risk Pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS2546074803 ACOX1 Health Risk Likely pathogenic Mitchell syndrome, Mitchell syndrome
RS2546074880 ACOX1 Health Risk Pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS2546075164 ACOX1 Health Risk Pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS2546075201 ACOX1 Health Risk Likely pathogenic Mitchell syndrome, Mitchell syndrome
RS2546075268 ACOX1 Health Risk Likely pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS2546075295 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2546075421 TRIM37 Health Risk Pathogenic/Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2546076304 ACOX1 Health Risk Pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS2546076440 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2546076865 TRIM37 Health Risk Pathogenic —
RS2546077425 LPIN1 Health Risk Pathogenic —
RS2546077768 ACOX1 Health Risk Likely pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS2546077811 ACOX1 Health Risk Pathogenic/Likely pathogenic Mitchell syndrome, Acyl-CoA oxidase deficiency
RS2546077877 ACOX1 Health Risk Likely pathogenic Mitchell syndrome, Mitchell syndrome
RS2546079404 ACOX1 Health Risk Likely pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS2546079619 ACOX1 Health Risk Pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS2546079926 ACOX1 Health Risk Likely pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS2546079927 ACOX1 Health Risk Likely pathogenic Mitchell syndrome, Mitchell syndrome
RS2546081500 ACOX1 Health Risk Likely pathogenic Mitchell syndrome, Mitchell syndrome
RS2546083094 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546083130 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546083325 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546083492 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546083545 LPIN1 Health Risk Likely pathogenic —
RS2546083610 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546083691 ACOX1 Health Risk Likely pathogenic Mitchell syndrome, Mitchell syndrome
RS2546084011 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546093466 TRIM37 Health Risk Likely pathogenic —
RS2546093861 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546093863 TRIM37 Health Risk Pathogenic —
RS2546094359 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546094362 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546094969 TRIM37 Health Risk Pathogenic —
RS2546095844 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2546096706 TPO Health Risk Likely pathogenic TPO-related disorder, TPO-related disorder
RS2546096906 TPO Health Risk Pathogenic —
RS2546097846 ACOX1 Health Risk Pathogenic/Likely pathogenic Acyl-CoA oxidase deficiency, Mitchell syndrome
RS2546097855 ACOX1 Health Risk Pathogenic/Likely pathogenic Acyl-CoA oxidase deficiency, Mitchell syndrome
RS2546097920 ACOX1 Health Risk Pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS2546097956 ACOX1 Health Risk Pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS2546098054 ACOX1 Health Risk Pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS2546099543 TPO Health Risk Likely pathogenic —
RS2546099890 TPO Health Risk Pathogenic —
RS2546101657 PRKG2 Health Risk Likely pathogenic Acromesomelic dysplasia 4, Acromesomelic dysplasia 4
RS2546110253 AFF3 Health Risk Likely pathogenic KINSSHIP syndrome, KINSSHIP syndrome
RS2546125695 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2546126494 TTC8 Health Risk Likely pathogenic Bardet-Biedl syndrome 8, Bardet-Biedl syndrome 8
RS2546126719 TTC8 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2546126754 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Distal myopathy with anterior tibial onset
RS2546127049 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546127084 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546127240 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546127671 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546129963 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2546130708 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2546137643 MFSD8 Health Risk Pathogenic Macular dystrophy with central cone involvement, Macular dystrophy with central cone involvement
RS2546138613 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546143605 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2546143756 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2546143809 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Distal myopathy with anterior tibial onset
RS2546143826 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2546144322 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2546148822 TRIM37 Health Risk Pathogenic —
RS2546150757 TSEN54 Health Risk Likely pathogenic —
RS2546151070 TSEN54 Health Risk Pathogenic —
RS2546151806 TSEN54 Health Risk Pathogenic —
RS2546151816 TSEN54 Health Risk Pathogenic —
RS2546153020 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2546154073 TSEN54 Health Risk Pathogenic —
RS2546154115 TSEN54 Health Risk Likely pathogenic —
RS2546156325 TSEN54 Health Risk Likely pathogenic Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS2546156411 TSEN54 Health Risk Likely pathogenic —
RS2546156657 TSEN54 Health Risk Pathogenic —
RS2546156736 TSEN54 Health Risk Pathogenic —
RS2546156895 TSEN54 Health Risk Pathogenic Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 4
RS2546156923 TSEN54 Health Risk Pathogenic —
RS2546156972 TSEN54 Health Risk Pathogenic —
RS2546157288 TSEN54 Health Risk Pathogenic —
RS2546157518 TSEN54 Health Risk Pathogenic —
RS2546158894 TSEN54 Health Risk Likely pathogenic —
RS2546164198 TPO Health Risk Likely pathogenic —
RS2546164421 TTC8 Health Risk Likely pathogenic Retinitis pigmentosa 51, Retinitis pigmentosa 51
RS2546164535 TPO Health Risk Pathogenic —
RS2546164705 TTC8 Health Risk Likely pathogenic Retinitis pigmentosa 51, Retinitis pigmentosa 51
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