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
RS115600896 TMEM63A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TMEM63A-related disorder
RS115602636 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS115604294 CAPN12 Health Risk Conflicting classifications of pathogenicity CAPN12-related disorder, CAPN12-related disorder
RS115605600 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS115605801 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7-related disorder
RS115606722 TACSTD2 Health Risk Conflicting classifications of pathogenicity —
RS115607360 MTMR14 Health Risk Conflicting classifications of pathogenicity —
RS115607645 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic cancer, susceptibility to
RS115612705 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS115614731 DOK7 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS115620008 HAL Health Risk Conflicting classifications of pathogenicity Histidinemia, Histidinemia
RS115622575 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS115623365 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1156240396 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS115624085 BCHE Health Risk Conflicting classifications of pathogenicity Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS1156243243 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS1156245096 HADHB Health Risk Pathogenic/Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 1
RS1156250216 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1156283736 SFXN4 Health Risk Pathogenic Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome, Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
RS115628561 CPAP Health Risk Conflicting classifications of pathogenicity Microcephaly 6, primary
RS1156299044 AMPD2 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9
RS1156299203 HCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1156299579 TCIRG1 Health Risk Pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1156305904 GLE1 Health Risk Likely pathogenic GLE1-related disorder, GLE1-related disorder
RS1156323870 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal recessive Alport syndrome
RS1156325177 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
RS1156330285 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS115633798 ERCC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Thymoma
RS1156344551 PIGS Health Risk Likely pathogenic —
RS115635198 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 12, BBS12-related disorder
RS1156352791 COL7A1 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS115638090 RUBCN Health Risk Conflicting classifications of pathogenicity —
RS1156390688 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Inborn genetic diseases
RS1156392394 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS1156392436 TGM1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS1156397632 FKBP10 Health Risk Pathogenic —
RS1156399205 CYFIP2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 65
RS115640152 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1156407486 POLR1C Health Risk Pathogenic Hypomyelinating leukodystrophy 11, Treacher Collins syndrome 3
RS1156410886 TONSL Health Risk Pathogenic —
RS1156410888 TNNT1 Health Risk Likely pathogenic Nemaline myopathy 5, Nemaline myopathy 5
RS1156413585 RMRP Health Risk Likely pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1156416298 CAD Health Risk Likely pathogenic —
RS11564176 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS1156424752 DPAGT1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 13, Congenital myasthenic syndrome 13
RS115643329 ERCC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1156444972 FLNC Health Risk Pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1156445260 DEGS1 Health Risk Pathogenic —
RS1156454797 ZP2 Health Risk Pathogenic Oocyte maturation defect 6, Oocyte maturation defect 6
RS1156454853 NDUFB9 Health Risk Conflicting classifications of pathogenicity —
RS11564717 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Generalized dystonia
RS11564720 INS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Maturity-onset diabetes of the young type 10
RS1156473739 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS115647631 DNAH1 Health Risk Conflicting classifications of pathogenicity Ciliary dyskinesia, primary
RS1156500366 PMM2 Health Risk Conflicting classifications of pathogenicity —
RS1156500992 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS115650537 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS115651105 PGAP3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1156517377 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C
RS1156524068 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1156538773 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1156561540 ZMIZ1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1156563889 GUSB Health Risk Pathogenic Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS1156566314 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1156573190 FAM20A Health Risk Likely pathogenic Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
RS1156577591 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS1156582406 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS1156588840 MOCOS Health Risk Conflicting classifications of pathogenicity Xanthinuria type II, Xanthinuria type II
RS115658952 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS115660279 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1156609341 CHD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CHARGE syndrome
RS1156612738 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ovarian cancer
RS1156614886 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1156634884 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A
RS115663668 TNNT1 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 5, Nemaline myopathy 5
RS1156647434 POMGNT1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1156662870 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1156693900 FANCF Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS115670342 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, TG-related disorder
RS115670442 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1156737044 PATL2 Health Risk Likely pathogenic Oocyte maturation defect 4, Oocyte maturation defect 4
RS1156745816 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1156747241 FBN1 Health Risk Pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan syndrome
RS115675008 COL9A2 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS1156763944 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS115677373 TGM5 Health Risk Pathogenic/Likely pathogenic Acral peeling skin syndrome, Acral peeling skin syndrome
RS11567841 LCK Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to LCK deficiency, LCK-related disorder
RS11567847 TEAD1 Health Risk Conflicting classifications of pathogenicity Helicoid peripapillary chorioretinal degeneration, Helicoid peripapillary chorioretinal degeneration
RS1156803164 IQCB1 Health Risk Pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS1156805286 DYSF Health Risk Pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1156815415 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS11568178 MLC1 Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts
RS1156823520 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms
RS1156833108 KARS1 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy, progressive
RS11568360 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS11568361 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS11568362 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS11568365 ABCB11 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, Progressive familial intrahepatic cholestasis type 2
RS11568372 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis
RS11568423 SLC7A7 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Autoinflammatory syndrome
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