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
RS1295444626 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS1295446479 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS1295448612 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Inborn genetic diseases
RS1295449344 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1295465247 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1295466248 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, Inborn genetic diseases
RS1295477856 KCNQ3 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS1295485913 MRE11 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1
RS1295524564 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1295527713 ATAD3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1295547257 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS1295555837 PEX10 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, complementation group 7
RS1295558388 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1295566242 SLC12A1 Health Risk Pathogenic —
RS1295567170 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1295577366 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1295595912 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1295614525 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1295630463 MVK Health Risk Likely pathogenic Mevalonic aciduria, Mevalonic aciduria
RS1295637847 PDE6A Health Risk Pathogenic —
RS1295645330 SCN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1295662769 POLE Health Risk Pathogenic —
RS1295669283 BEST1 Health Risk Pathogenic Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2
RS1295669429 SGCE Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Myoclonic dystonia 11
RS1295678117 DOCK2 Health Risk Conflicting classifications of pathogenicity DOCK2 deficiency, DOCK2 deficiency
RS1295688123 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS1295689490 AGRN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital myasthenic syndrome 8
RS1295703239 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS1295732689 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1295769704 GATA4 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect 4, Cardiovascular phenotype
RS1295790880 CDK13 Health Risk Conflicting classifications of pathogenicity Congenital heart defects, dysmorphic facial features
RS1295791827 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS1295802121 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1295805735 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS1295812149 AIFM1 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation deficiency, Charcot-Marie-Tooth Neuropathy X
RS1295875245 PPFIA3 Health Risk Likely pathogenic PPFIA3-related disorder, PPFIA3-related disorder
RS1295893226 CEP290 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1295920871 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1295923763 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS1295929595 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS1295935628 DMD Health Risk Pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS1295942947 NOP56 Health Risk Likely pathogenic Spinocerebellar ataxia type 36, Spinocerebellar ataxia type 36
RS1295948508 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, 6 conditions
RS1295954187 AGPS Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
RS1295957061 COL17A1 Health Risk Likely pathogenic Amelogenesis imperfecta, Epidermolysis bullosa
RS1295968274 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1295969050 SMARCB1 Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome, Hereditary cancer-predisposing syndrome
RS1296005499 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1296009403 JPH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary dilated cardiomyopathy
RS1296022681 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1296033854 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS1296034184 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1296034492 UPB1 Health Risk Pathogenic Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
RS1296034886 LAMA3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1296034887 BAZ2B Health Risk Likely pathogenic BAZ2B-related disorder, BAZ2B-related disorder
RS1296037862 ALDH7A1 Health Risk Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1296042817 PDE6B Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 40, Retinal dystrophy
RS1296066077 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS1296069449 AARS2 Health Risk Likely pathogenic Leukoencephalopathy, progressive
RS1296095311 ALOXE3 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 3
RS1296112405 FOXI3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1296153120 WASHC5 Health Risk Conflicting classifications of pathogenicity WASHC5-related disorder, Hereditary spastic paraplegia 8
RS1296156738 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1296165092 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis
RS1296165748 TYR Health Risk Pathogenic —
RS1296189593 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS1296191006 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1296209846 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1296227373 SUN1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS1296234074 TMC6 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS1296238058 BRIP1 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS1296249274 ERCC2 Health Risk Likely pathogenic —
RS1296262946 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1296268275 CYP21A2 Health Risk Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS1296271407 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1296293849 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Inborn genetic diseases
RS1296301139 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1296301971 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1296322530 NEK1 Health Risk Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS1296345962 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1296348337 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
RS1296353492 CIB1 Health Risk Pathogenic —
RS1296360030 CEP152 Health Risk Likely pathogenic —
RS1296378838 GCGR Health Risk Pathogenic GCGR-related hyperglucagonemia, GCGR-related hyperglucagonemia
RS1296437426 WARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder
RS1296444163 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1296471018 ATP13A2 Health Risk Likely pathogenic Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS1296477757 GATA2 Health Risk Conflicting classifications of pathogenicity GATA2 deficiency with susceptibility to MDS/AML, Deafness-lymphedema-leukemia syndrome
RS1296485321 GORAB Health Risk Pathogenic —
RS1296507371 GBA1 Health Risk Conflicting classifications of pathogenicity Gaucher disease type I, 7 conditions
RS1296511709 TOP3A Health Risk Likely pathogenic —
RS1296531416 GLRA1 Health Risk Conflicting classifications of pathogenicity Hereditary hyperekplexia, Hyperekplexia 1
RS1296550753 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS1296550963 CHAT Health Risk Pathogenic/Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS1296578005 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1296589338 EMC1 Health Risk Pathogenic —
RS1296595611 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS1296603906 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS1296610881 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1296612982 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
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