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
RS776501374 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS776501578 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS776501892 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS776502547 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS776502858 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS776505129 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS776505795 TMC6 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS776506332 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS776506361 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS776506570 PITPNM3 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 5, Cone-rod dystrophy 5
RS776508077 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS776509414 MYO15A Health Risk Pathogenic —
RS776509462 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS776509489 F9 Health Risk Conflicting classifications of pathogenicity Thrombophilia, X-linked
RS776509864 ATP6V0A2 Health Risk Pathogenic ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS776511246 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS776511562 POLR1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776512377 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS776512547 LRP5 Health Risk Likely pathogenic —
RS776513864 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS776513865 COL4A5 Health Risk Likely pathogenic —
RS776513970 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS776515172 ZP1 Health Risk Pathogenic —
RS776516070 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, DSG2-related disorder
RS776516754 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS776518265 KIDINS220 Health Risk Conflicting classifications of pathogenicity KIDINS220-related disorder, Inborn genetic diseases
RS776519022 CRBN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776519156 FRMD7 Health Risk Conflicting classifications of pathogenicity Nystagmus 1, congenital
RS776519655 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS776522715 RFT1 Health Risk Likely pathogenic RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
RS776523167 ASPM Health Risk Conflicting classifications of pathogenicity —
RS776523818 ARX Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS776525427 RTEL1 Health Risk Pathogenic/Likely pathogenic Interstitial lung disease 2, Dyskeratosis congenita
RS776526721 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS776527541 PKDCC Health Risk Pathogenic —
RS776528054 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS776528706 CPAP Health Risk Conflicting classifications of pathogenicity Seckel syndrome 4, Seckel syndrome 4
RS776529140 ABCD4 Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Methylmalonic acidemia with homocystinuria
RS776529713 FANCC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia
RS776530672 C1QC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776530913 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS776531529 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS776532221 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS776532930 NUP88 Health Risk Pathogenic Fetal akinesia deformation sequence 4, Fetal akinesia deformation sequence 4
RS776533804 TWNK Health Risk Likely pathogenic See cases, See cases
RS776533873 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A1
RS776534234 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, KIF1B-related disorder
RS776534331 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS776534749 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS776534924 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS776535691 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis 4
RS776536038 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS776536464 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, Sandhoff disease
RS776536485 HNF1B Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS776537364 LAMB3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Amelogenesis imperfecta type 1A
RS776538943 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS776540681 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation
RS776540918 CHRNB1 Health Risk Likely pathogenic Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A
RS776541315 MAK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS776541842 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS776542098 POGLUT1 Health Risk Pathogenic/Likely pathogenic —
RS776543880 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS776544497 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS776545207 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS776545903 PYGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type VI
RS776547943 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS776548082 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776548109 SCN1A Health Risk Conflicting classifications of pathogenicity Autosomal dominant epilepsy, Early-infantile DEE
RS776548207 LAMA2 Health Risk Pathogenic/Likely pathogenic Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS776548474 OR2A42 Health Risk Conflicting classifications of pathogenicity —
RS776549587 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Inborn genetic diseases
RS776549742 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS776549962 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS776550479 RYR2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Primary familial dilated cardiomyopathy
RS776550709 COL4A2 Health Risk Likely pathogenic —
RS776551401 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS776552123 SLC29A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776552179 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS776552228 TGM1 Health Risk Pathogenic —
RS776553164 TG Health Risk Pathogenic Autoimmune thyroid disease, susceptibility to
RS776553769 CAMTA1 Health Risk Likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS776554504 NPRL3 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial focal
RS776554898 CEP250 Health Risk Pathogenic —
RS776556963 BAZ1A Health Risk Pathogenic VATER/VACTERL association with CNS malformations, VATER/VACTERL association with CNS malformations
RS776559145 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms
RS776559491 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS776559643 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS776560015 NKX6-2 Health Risk Pathogenic Spastic ataxia 8, autosomal recessive
RS776560190 HPS3 Health Risk Pathogenic —
RS776560257 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS776561287 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS776561706 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS776561735 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS776561802 GPR156 Health Risk Pathogenic/Likely pathogenic Hearing loss, autosomal recessive
RS776562411 FZD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776563011 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS776564041 EYS Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS776564144 COL5A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS776564196 VDR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776564345 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KMT2B-related disorder
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