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
RS201008270 PDE6A Health Risk Conflicting classifications of pathogenicity PDE6A-related disorder, Inborn genetic diseases
RS201008307 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS201008667 WWOX Health Risk Pathogenic/Likely pathogenic Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS201008705 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Inborn genetic diseases
RS201008835 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS201008860 TTC7A Health Risk Conflicting classifications of pathogenicity Multiple gastrointestinal atresias, Inborn genetic diseases
RS201009019 FAT4 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS201009269 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS201009426 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS201009485 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome 1, Perrault syndrome
RS201009563 DNAH8 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS201009683 MYO9B Health Risk Conflicting classifications of pathogenicity —
RS201010209 TNNI3K Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201010303 ACTL6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial thoracic aortic aneurysm and aortic dissection
RS201010315 BEST1 Health Risk Conflicting classifications of pathogenicity Vitelliform macular dystrophy 2, Retinitis pigmentosa
RS201010803 TCTN2 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome and related disorders
RS201010866 NPAT Health Risk Conflicting classifications of pathogenicity —
RS201011094 HEPACAM Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts
RS201011683 LAMC3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS201012145 MBOAT7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201012489 SLC26A2 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IB
RS201012726 ELN Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal dominant 1
RS201012766 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS201012865 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, MYH7-related skeletal myopathy
RS201013104 WDR4 Health Risk Pathogenic —
RS201013164 PTH1R Health Risk Conflicting classifications of pathogenicity —
RS201014417 ELOVL4 Health Risk Conflicting classifications of pathogenicity Stargardt disease 3, ELOVL4-related disorder
RS201014514 GPR179 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201014646 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Thrombocytopenia 2
RS201014738 ACAD9 Health Risk Conflicting classifications of pathogenicity —
RS201014934 PACS2 Health Risk Conflicting classifications of pathogenicity —
RS201015273 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), Autoinflammatory syndrome
RS201015655 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, TGM1-related disorder
RS201015672 ZNF141 Health Risk Conflicting classifications of pathogenicity —
RS201015728 CACNA1B Health Risk Conflicting classifications of pathogenicity —
RS201015785 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11
RS201016593 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS201017015 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Spermatogenic failure 28
RS201017122 RP1L1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 88, Occult macular dystrophy
RS201017334 RIMS1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 7, Retinal dystrophy
RS201017398 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201017613 PTPN23 Health Risk Conflicting classifications of pathogenicity Global developmental delay, Brain atrophy
RS201017642 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS201017713 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS201018263 LRP5 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Severe early-childhood-onset retinal dystrophy
RS201018751 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 8
RS201018826 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS201018927 DNAH17 Health Risk Likely pathogenic Spermatogenic failure 39, Spermatogenic failure 39
RS201019681 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201019894 HADH Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Hyperinsulinemic hypoglycemia
RS201020293 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS201020526 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Inborn genetic diseases
RS201020802 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS201021366 MFRP Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, Inborn genetic diseases
RS201021542 NCF4 Health Risk Pathogenic/Likely pathogenic Granulomatous disease, chronic
RS201021615 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, MYH9-related disorder
RS201021733 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS201022138 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS201022619 APP Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Alzheimer disease
RS201023112 DHODH Health Risk Conflicting classifications of pathogenicity Miller syndrome, Miller syndrome
RS201023196 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, UNC13D-related disorder
RS201023432 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201023600 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, MYO3A-related disorder
RS201023639 PROKR2 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
RS201023640 AIMP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, AIMP1-related disorder
RS201024064 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS201024551 NTRK2 Health Risk Conflicting classifications of pathogenicity —
RS201024763 FAAH2 Health Risk Conflicting classifications of pathogenicity —
RS201024847 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Sick sinus syndrome 1
RS201024919 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS201024952 FOXG1 Health Risk Conflicting classifications of pathogenicity FOXG1 disorder, FOXG1 disorder
RS201024982 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS201025290 TYK2 Health Risk Pathogenic Immunodeficiency 35, Immunodeficiency 35
RS201025441 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS201025468 MASP1 Health Risk Conflicting classifications of pathogenicity 3MC syndrome 1, MASP1-related disorder
RS201025783 MMACHC Health Risk Conflicting classifications of pathogenicity Cobalamin C disease, MMACHC-related disorder
RS201025841 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS201026034 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS201026246 RGS9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201026468 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS201026769 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS201027172 PROM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201027607 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS201028172 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS201028196 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS201028204 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS201028676 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS201028777 RRM2B Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a, Rod-cone dystrophy
RS201028861 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS201028903 UBE3B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201028938 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS201029096 TRPS1 Health Risk Conflicting classifications of pathogenicity Trichorhinophalangeal syndrome, type III
RS201029409 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS201029419 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS201029552 TTN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Dilated cardiomyopathy 1G
RS201029706 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS201029723 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS201030020 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS201030108 LAMA1 Health Risk Conflicting classifications of pathogenicity LAMA1-related disorder, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS201030241 LRP5 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
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