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
RS1569552105 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype
RS1569552106 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS1569552731 TAFAZZIN Health Risk Pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS1569552936 TAFAZZIN Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, 3-Methylglutaconic aciduria type 2
RS1569553475 GDI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1569555987 DMD Health Risk Pathogenic —
RS1569556522 IKBKG Health Risk Pathogenic Immunodeficiency 33, Immunodeficiency 33
RS1569556603 IKBKG Health Risk Likely pathogenic Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1
RS1569556615 IKBKG Health Risk Pathogenic Incontinentia pigmenti syndrome, Incontinentia pigmenti syndrome
RS1569556943 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569556948 DMD Health Risk Pathogenic —
RS1569558474 DKC1 Health Risk Likely pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1569558616 DKC1 Health Risk Pathogenic Dyskeratosis congenita, X-linked
RS1569558906 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS1569558909 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569558953 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS1569558964 DMD Health Risk Pathogenic —
RS1569559097 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569559106 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS1569559110 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569559198 DMD Health Risk Pathogenic —
RS1569559204 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS1569559514 F8 Health Risk Pathogenic —
RS1569559516 F8 Health Risk Likely pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS1569559523 F8 Health Risk Likely pathogenic —
RS1569559755 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1569559758 F8 Health Risk Likely pathogenic —
RS1569559822 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569559849 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569559881 F8 Health Risk Likely pathogenic —
RS1569559955 F8 Health Risk Conflicting classifications of pathogenicity —
RS1569560392 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS1569560475 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS1569560477 DMD Health Risk Pathogenic —
RS1569560489 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS1569560525 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS1569560527 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS1569560528 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS1569560626 DMD Health Risk Pathogenic —
RS1569560739 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569561107 RAB39B Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1569561687 DMD Health Risk Pathogenic —
RS1569562466 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569562570 DMD Health Risk Pathogenic —
RS1569562573 DMD Health Risk Pathogenic —
RS1569562933 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569562936 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569562941 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS1569562951 DMD Health Risk Pathogenic —
RS1569562952 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569563278 DMD Health Risk Pathogenic —
RS1569563678 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Abnormality of the musculature
RS1569563740 DMD Health Risk Pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS1569563751 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Cardiovascular phenotype
RS1569564281 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569564916 DMD Health Risk Conflicting classifications of pathogenicity Becker muscular dystrophy, Duchenne muscular dystrophy
RS1569565192 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1569565497 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS1569565525 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Thyroid cancer
RS1569579635 TACSTD2 Health Risk Pathogenic Gelatinous droplike corneal dystrophy, Gelatinous droplike corneal dystrophy
RS1569602837 EPHA2 Health Risk Pathogenic Cataract 6 multiple types, Cataract 6 multiple types
RS1569646997 AK2 Health Risk Pathogenic Reticular dysgenesis, Reticular dysgenesis
RS1569656981 SKI Health Risk Likely pathogenic Shprintzen-Goldberg syndrome, Neurodevelopmental abnormality
RS1569660908 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1569668526 ZMPSTE24 Health Risk Pathogenic Lethal tight skin contracture syndrome, Lethal tight skin contracture syndrome
RS1569671504 ZMPSTE24 Health Risk Likely pathogenic —
RS1569684523 DVL1 Health Risk Pathogenic Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
RS1569687023 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1569692271 MYSM1 Health Risk Likely pathogenic —
RS1569704391 VPS13D Health Risk Pathogenic/Likely pathogenic —
RS1569708580 PLOD1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1569712066 ESPN Health Risk Pathogenic Deafness, autosomal recessive 36
RS1569713366 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS1569724692 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS1569726455 ESPN Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 36
RS1569763108 COL9A2 Health Risk Pathogenic Epiphyseal dysplasia, multiple
RS1569763139 COL9A2 Health Risk Pathogenic Epiphyseal dysplasia, multiple
RS1569770360 MYSM1 Health Risk Pathogenic Bone marrow failure syndrome 4, Bone marrow failure syndrome 4
RS1569770998 ESPN Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 36
RS1569771486 ESPN Health Risk Likely pathogenic Deafness, without vestibular involvement
RS1569777589 VPS13D Health Risk Likely pathogenic —
RS1569798933 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS1569815882 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS1569816194 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1569816262 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1569816285 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS1569829573 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, axonal
RS1569829894 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1569830013 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS1569834500 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS1569834720 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1569842143 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1569842296 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2
RS1569842458 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1569842483 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1569842627 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS1569842685 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1569842714 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS1569842764 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2A2
RS1569843694 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
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