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
RS113002150 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS113002470 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS113003674 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS113005049 ABCG8 Health Risk Conflicting classifications of pathogenicity ABCG8-related disorder, Sitosterolemia 1
RS113005278 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS113014863 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, AP5Z1-related disorder
RS113016401 TSEN54 Health Risk Conflicting classifications of pathogenicity —
RS113017484 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS113018012 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS113019286 CD79A Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 3, autosomal recessive
RS113019349 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS113020040 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
RS113022759 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS113022801 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS113028018 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS113029858 GNAS Health Risk Pathogenic Pseudohypoparathyroidism, Pseudohypoparathyroidism
RS113030871 ALOXE3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS113030903 CSPG4 Health Risk Conflicting classifications of pathogenicity —
RS113032343 MKKS Health Risk Conflicting classifications of pathogenicity McKusick-Kaufman syndrome, Bardet-Biedl syndrome
RS113034291 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS113041399 COQ8A Health Risk Conflicting classifications of pathogenicity —
RS113042313 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS113044084 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly
RS113051005 TNNT2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1D
RS113051956 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, FANCA-related disorder
RS113052745 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Hereditary cancer-predisposing syndrome
RS113055208 IFNA4 Health Risk risk factor Multisystem inflammatory syndrome in children, Multisystem inflammatory syndrome in children
RS113055360 MPV17 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease
RS113058506 COX10 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex IV deficiency
RS113058779 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS113065116 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS113067020 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS113067047 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS113067443 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Chromosome 2p16.3 deletion syndrome
RS113070757 SMARCA2 Health Risk Conflicting classifications of pathogenicity Coffin Siris/Intellectual Disability, Nicolaides-Baraitser syndrome
RS113075052 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11
RS113077137 LAMB3 Health Risk Likely pathogenic Amelogenesis imperfecta type 1A, Junctional epidermolysis bullosa gravis of Herlitz
RS113077827 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS113080385 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS113080417 UNC45A Health Risk Conflicting classifications of pathogenicity UNC45A-related disorder, Inborn genetic diseases
RS113082294 HBB Health Risk Conflicting classifications of pathogenicity beta Thalassemia, Fetal hemoglobin quantitative trait locus 1
RS113082671 PPT1 Health Risk Conflicting classifications of pathogenicity PPT1-related disorder, Neuronal ceroid lipofuscinosis 1
RS113082854 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS113085352 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS113086273 RPL15 Health Risk Conflicting classifications of pathogenicity —
RS113086760 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS113086994 C7 Health Risk Likely pathogenic —
RS113090017 NR1H4 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS11309117 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Lynch syndrome 1
RS113091231 CNKSR2 Health Risk Conflicting classifications of pathogenicity Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
RS113091511 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy
RS113091571 HABP2 Health Risk Conflicting classifications of pathogenicity Factor VII Marburg I Variant Thrombophilia, HABP2-related disorder
RS113092523 PINK1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS113094436 UGDH Health Risk Likely pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS113097169 MESP2 Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 2, autosomal recessive
RS113097435 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS113097830 CEACAM5 Health Risk Conflicting classifications of pathogenicity —
RS113100043 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1131003 TPM1 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1131040 HARS1 Health Risk Pathogenic 10 conditions, Spastic ataxia
RS1131063 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS113106943 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Cone dystrophy
RS113109898 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS113110683 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS113111047 HNF1A Health Risk Conflicting classifications of pathogenicity —
RS113112630 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS113112856 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Multiple epiphyseal dysplasia
RS113124819 MYLK Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS113130911 MYH9 Health Risk Conflicting classifications of pathogenicity Kidney disorder, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS113133985 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS113139501 SPTB Health Risk Conflicting classifications of pathogenicity —
RS113145242 MYLK3 Health Risk Conflicting classifications of pathogenicity —
RS113146258 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS113147933 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS113149937 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS113153193 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS113156338 CSF2RB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Acute myeloid leukemia
RS113157023 CRB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CRB2-related disorder
RS113157354 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS113158271 KIF1A Health Risk Likely pathogenic Neuropathy, hereditary sensory
RS113161460 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS113162185 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Zellweger spectrum disorders
RS113163375 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS113164417 F2 Health Risk Likely pathogenic Congenital prothrombin deficiency, Congenital prothrombin deficiency
RS1131653 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS113167523 EFEMP2 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS113168943 WASHC4 Health Risk Conflicting classifications of pathogenicity —
RS1131690770 ELOVL4 Health Risk Pathogenic Stargardt disease 3, Retinal dystrophy
RS1131690772 ELOVL4 Health Risk Pathogenic Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome, Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
RS1131690773 KIF1C Health Risk Pathogenic Spastic ataxia 2, Spastic ataxia 2
RS1131690775 NEK1 Health Risk Likely pathogenic Motor neuron disease, Motor neuron disease
RS1131690778 NEK1 Health Risk Conflicting classifications of pathogenicity Motor neuron disease, Short-rib thoracic dysplasia 6 with or without polydactyly
RS1131690781 SOD1 Health Risk Likely pathogenic Motor neuron disease, Amyotrophic lateral sclerosis type 1
RS1131690782 TARDBP Health Risk Pathogenic Motor neuron disease, Motor neuron disease
RS1131690785 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1131690786 ZDHHC9 Health Risk Pathogenic/Likely pathogenic Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type
RS1131690787 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1131690788 IKZF1 Health Risk Conflicting classifications of pathogenicity Pancytopenia due to IKZF1 mutations, Pancytopenia due to IKZF1 mutations
RS1131690789 RBM10 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1131690792 AQP2 Health Risk Likely pathogenic Diabetes insipidus, nephrogenic
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