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
RS200476090 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS200476500 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200476515 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS200476861 SGCD Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2F, Cardiomyopathy
RS200477258 AAGAB Health Risk Conflicting classifications of pathogenicity —
RS200477301 SLC45A2 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS200477386 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS200477457 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS200477735 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS200478034 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200478135 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS200478425 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS200478641 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS200479612 FANCG Health Risk Likely pathogenic Fanconi anemia complementation group G, Fanconi anemia
RS200479834 MTR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Neural tube defects
RS200479892 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS200479973 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS200480021 SMAD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SMAD2-related disorder
RS200480072 STAR Health Risk Conflicting classifications of pathogenicity Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS200480164 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, MYOM1-related disorder
RS200480185 EEF2 Health Risk Conflicting classifications of pathogenicity —
RS200480327 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS200480831 COQ8B Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 9
RS200481156 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS200481467 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Connective tissue disorder
RS200481902 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS200482214 TGFB1 Health Risk Conflicting classifications of pathogenicity TGFB1-related disorder, TGFB1-related disorder
RS200482255 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS200482683 AXDND1;NPHS2 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 2
RS200482827 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200482836 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS200482899 FREM1 Health Risk Conflicting classifications of pathogenicity FREM1-related disorder, FREM1-related disorder
RS200482978 SLC39A4 Health Risk Pathogenic Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS200483245 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS200483285 TMPRSS15 Health Risk Conflicting classifications of pathogenicity —
RS200483477 MMACHC Health Risk Conflicting classifications of pathogenicity Cobalamin C disease, Disorders of Intracellular Cobalamin Metabolism
RS200483534 SRPX2 Health Risk Conflicting classifications of pathogenicity Rolandic epilepsy, intellectual disability
RS200483634 PRX Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4F
RS200483708 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS200483763 FOXC2 Health Risk Conflicting classifications of pathogenicity FOXC2-related disorder, Inborn genetic diseases
RS200483989 SLC3A1 Health Risk Pathogenic Cystinuria, Autism spectrum disorder
RS200484042 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 10, Primary ciliary dyskinesia
RS200484060 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS200484286 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS200484521 SYNE4 Health Risk Conflicting classifications of pathogenicity Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 76
RS200484625 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome 1
RS200484869 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Inborn genetic diseases
RS200485062 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS200485958 JAGN1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency, Inborn genetic diseases
RS200485999 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS200486203 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200486515 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS200486519 BUB1 Health Risk Conflicting classifications of pathogenicity —
RS200486767 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS200487337 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 13
RS200487396 COL12A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS200487405 CACNA1S Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS200487610 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Inborn genetic diseases
RS200487648 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS200487813 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Inborn genetic diseases
RS200487900 MACF1 Health Risk Conflicting classifications of pathogenicity MACF1-related disorder, Lissencephaly 9 with complex brainstem malformation
RS200487992 SIX5 Health Risk Conflicting classifications of pathogenicity Branchiootorenal syndrome 2, Branchiootorenal syndrome 2
RS200488037 HAMP Health Risk Likely pathogenic Hereditary hemochromatosis, Hemochromatosis type 2B
RS200488179 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS200488264 PADI6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200488444 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Kartagener syndrome
RS200488448 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS200488568 SBF1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B3, Tip-toe gait
RS200488874 CCDC88C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CCDC88C-related disorder
RS200488881 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS200489046 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200489439 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200489972 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS200489974 RNF13 Health Risk Conflicting classifications of pathogenicity —
RS200490116 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Seckel syndrome 1
RS200490320 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, Usher syndrome type 1C
RS200490325 EPHA2 Health Risk Conflicting classifications of pathogenicity Cataract 6 multiple types, Cataract 6 multiple types
RS200490364 MARS1 Health Risk Conflicting classifications of pathogenicity Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U
RS200490629 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS200490682 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS200490883 COL12A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS200491078 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS200491395 CARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27, CARS2-related disorder
RS200491456 KIF1B Health Risk Conflicting classifications of pathogenicity KIF1B-related disorder, KIF1B-related disorder
RS200491579 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis
RS200491699 COASY Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 6, Neurodegeneration with brain iron accumulation 6
RS200491742 TNNI3K Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200491758 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS200492200 ARHGEF1 Health Risk Conflicting classifications of pathogenicity ARHGEF1-related disorder, ARHGEF1-related disorder
RS200492211 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS200492363 RGS9 Health Risk Conflicting classifications of pathogenicity —
RS200493270 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200493962 TRIOBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TRIOBP-related disorder
RS200493975 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS200495090 ATL3 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS200495316 FGFR3 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Growth failure in early childhood
RS200495440 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, Trigonocephaly 2
RS200495506 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS200495564 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS200495720 WDR35 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
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