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
RS104894673 CRX Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 7, Retinal dystrophy
RS104894675 DLL3 Health Risk Pathogenic Spondylocostal dysostosis 1, autosomal recessive
RS104894676 DLL3 Health Risk Pathogenic/Likely pathogenic Spondylocostal dysostosis 1, autosomal recessive
RS104894677 ETFB Health Risk Pathogenic/Likely pathogenic Glutaric acidemia IIb, Multiple acyl-CoA dehydrogenase deficiency
RS104894678 ETFB Health Risk Conflicting classifications of pathogenicity Glutaric acidemia IIb, Multiple acyl-CoA dehydrogenase deficiency
RS104894679 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development)
RS104894680 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development)
RS104894681 FKRP Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS104894682 FKRP Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS104894683 FKRP Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS104894684 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS104894685 FTL Health Risk Pathogenic Neuroferritinopathy, Neuroferritinopathy
RS104894687 FUT1 Health Risk Pathogenic Para-Bombay phenotype, Para-Bombay phenotype
RS104894688 FUT1 Health Risk Pathogenic Para-Bombay phenotype, Para-Bombay phenotype
RS104894689 FKRP Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS104894691 FKRP Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS104894692 FKRP Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS104894694 GAMT Health Risk Likely pathogenic Deficiency of guanidinoacetate methyltransferase, Cerebral creatine deficiency syndrome
RS104894695 HAMP Health Risk Pathogenic Hemochromatosis type 2B, Hemochromatosis type 2B
RS104894697 INSL3 Health Risk Pathogenic Cryptorchidism, Cryptorchidism
RS104894698 INSL3 Health Risk Pathogenic Cryptorchidism, Cryptorchidism
RS104894699 KCNC3 Health Risk Pathogenic Spinocerebellar ataxia type 13, Hereditary ataxia
RS104894700 KCNC3 Health Risk Pathogenic Spinocerebellar ataxia type 13, Spinocerebellar ataxia type 13
RS104894701 KISS1R Health Risk Pathogenic Hypogonadotropic hypogonadism 8 without anosmia, Hypogonadotropic hypogonadism 8 without anosmia
RS104894702 KISS1R Health Risk Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 8 without anosmia, KISS1R-related disorder
RS104894703 KISS1R Health Risk Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 8 without anosmia, Central precocious puberty 1
RS104894704 KLK4 Health Risk Likely pathogenic Amelogenesis imperfecta type 2A1, Amelogenesis imperfecta type 2A1
RS104894705 NDUFS7 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 3
RS104894706 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease
RS104894707 PRX Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4
RS104894708 PRX Health Risk Pathogenic/Likely pathogenic Dejerine-Sottas disease, Charcot-Marie-Tooth disease type 4F
RS104894709 RFXANK Health Risk Pathogenic/Likely pathogenic MHC class II deficiency, MHC class II deficiency 2
RS104894711 RPS19 Health Risk Pathogenic/Likely pathogenic Diamond-Blackfan anemia 1, Diamond-Blackfan anemia
RS104894714 PRX Health Risk Pathogenic Autosomal recessive Dejerine-Sottas syndrome, Charcot-Marie-Tooth disease type 4F
RS104894715 PRX Health Risk Pathogenic/Likely pathogenic Autosomal recessive Dejerine-Sottas syndrome, Charcot-Marie-Tooth disease type 4
RS104894716 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia 1, Diamond-Blackfan anemia
RS104894717 RPS19 Health Risk Pathogenic —
RS104894718 SCN1B Health Risk Pathogenic/Likely pathogenic Generalized epilepsy with febrile seizures plus, type 1
RS104894719 TGFB1 Health Risk Pathogenic Diaphyseal dysplasia, Diaphyseal dysplasia
RS104894720 TGFB1 Health Risk Pathogenic/Likely pathogenic Diaphyseal dysplasia, Inborn genetic diseases
RS104894721 TGFB1 Health Risk Pathogenic Diaphyseal dysplasia, See cases
RS104894722 TGFB1 Health Risk Pathogenic Diaphyseal dysplasia, Diaphyseal dysplasia
RS104894724 TNNI3 Health Risk Pathogenic Hypertrophic cardiomyopathy 7, Cardiovascular phenotype
RS104894725 TNNI3 Health Risk Pathogenic Hypertrophic cardiomyopathy 7, Hypertrophic cardiomyopathy 7
RS104894727 TNNI3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 7, Primary familial hypertrophic cardiomyopathy
RS104894728 TNNI3 Health Risk Pathogenic Cardiomyopathy, familial restrictive
RS104894729 TNNI3 Health Risk Likely pathogenic Cardiomyopathy, familial restrictive
RS104894730 TNNI3 Health Risk Pathogenic Cardiomyopathy, familial restrictive
RS104894732 TYROBP Health Risk Pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
RS104894733 AMELX Health Risk Pathogenic Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E
RS104894734 AMELX Health Risk Pathogenic Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E
RS104894735 AP1S2 Health Risk Pathogenic Pettigrew syndrome, Pettigrew syndrome
RS104894736 AMELX Health Risk Pathogenic Amelogenesis imperfecta type 1E, AMELX-related disorder
RS104894737 AMELX Health Risk Pathogenic Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E
RS104894738 AMELX Health Risk Pathogenic Amelogenesis imperfecta type 1E, Amelogenesis imperfecta type 1E
RS104894739 AP1S2 Health Risk Pathogenic Pettigrew syndrome, Pettigrew syndrome
RS104894740 ARX Health Risk Pathogenic X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia
RS104894741 ARX Health Risk Pathogenic X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia
RS104894742 AR Health Risk Pathogenic Partial androgen insensitivity syndrome, Partial androgen insensitivity syndrome
RS104894743 ARX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS104894745 ARX Health Risk Pathogenic Corpus callosum agenesis-abnormal genitalia syndrome, epileptic encephalopathy
RS104894746 ARX Health Risk Conflicting classifications of pathogenicity Hydranencephaly with abnormal genitalia, Developmental and epileptic encephalopathy
RS104894747 AVPR2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS104894748 AVPR2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS104894749 AVPR2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS104894750 AVPR2 Health Risk Likely pathogenic Diabetes insipidus, nephrogenic
RS104894751 AVPR2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS104894752 AVPR2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS104894753 AVPR2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS104894754 AVPR2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS104894755 AVPR2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS104894756 AVPR2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS104894757 AVPR2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS104894758 AVPR2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS104894759 AVPR2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS104894760 AVPR2 Health Risk Likely pathogenic Diabetes insipidus, nephrogenic
RS104894761 AVPR2 Health Risk Likely pathogenic Nephrogenic syndrome of inappropriate antidiuresis, Nephrogenic diabetes insipidus
RS104894763 BMP15 Health Risk Conflicting classifications of pathogenicity Premature ovarian failure 4, Ovarian dysgenesis 2
RS104894764 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS104894765 BMP15 Health Risk Pathogenic Ovarian dysgenesis 2, Ovarian dysgenesis 2
RS104894766 BMP15 Health Risk Conflicting classifications of pathogenicity Premature ovarian failure 4, Ovarian dysgenesis 2
RS104894767 BMP15 Health Risk Conflicting classifications of pathogenicity Premature ovarian failure 4, Ovarian dysgenesis 2
RS104894768 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS104894769 CD40LG Health Risk Likely pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS104894770 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS104894771 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS104894774 CD40LG Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS104894775 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS104894776 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS104894777 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS104894778 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS104894779 DCX Health Risk Pathogenic/Likely pathogenic Subcortical laminar heterotopia, X-linked
RS104894780 DCX Health Risk Pathogenic/Likely pathogenic Lissencephaly type 1 due to doublecortin gene mutation, Subcortical laminar heterotopia
RS104894781 DCX Health Risk Pathogenic Subcortical laminar heterotopia, X-linked
RS104894782 DCX Health Risk Pathogenic Subcortical laminar heterotopia, X-linked
RS104894784 DCX Health Risk Pathogenic Subcortical laminar heterotopia, X-linked
RS104894785 DCX Health Risk Pathogenic Subcortical laminar heterotopia, X-linked
RS104894786 DCX Health Risk Conflicting classifications of pathogenicity Subcortical laminar heterotopia, X-linked
RS104894787 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS104894788 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
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