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
RS150534134 ZFP36L2 Health Risk Likely pathogenic Oocyte maturation defect 13, Oocyte maturation defect 13
RS150534218 COMP Health Risk Conflicting classifications of pathogenicity Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Multiple epiphyseal dysplasia type 1
RS150534917 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS150535792 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS150536049 CARD14 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris
RS150536401 GLMN Health Risk Conflicting classifications of pathogenicity Glomuvenous malformation, Inborn genetic diseases
RS150536507 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS150537373 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Complement component 3 deficiency
RS150539264 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS150539399 NDUFAF1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS150539474 SLC45A1 Health Risk Likely pathogenic Intellectual developmental disorder with neuropsychiatric features, Intellectual developmental disorder with neuropsychiatric features
RS150542529 NUP205 Health Risk Conflicting classifications of pathogenicity NUP205-related disorder, Nephrotic syndrome
RS150543090 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS150543576 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS150543864 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS150543946 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS150544093 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Myopathy
RS150544263 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS150545495 PRICKLE1 Health Risk Conflicting classifications of pathogenicity Epilepsy, progressive myoclonic
RS150545516 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS150546646 TMC8 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, susceptibility to
RS150546732 SLC5A2 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, Familial renal glucosuria
RS150547274 PYGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type VI
RS150548151 WDR72 Health Risk Conflicting classifications of pathogenicity Amelogenesis imperfecta hypomaturation type 2A3, WDR72-related disorder
RS150548221 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS150548839 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS150549628 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS150549869 C1S Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, periodontal type 2
RS150549897 ADGRV1 Health Risk Conflicting classifications of pathogenicity ADGRV1-related disorder, ADGRV1-related disorder
RS150550013 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS150550220 ALG14 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 15, Congenital myopathy
RS150550252 PSEN1 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 3, Dilated cardiomyopathy 1U
RS150551001 ANLN Health Risk Conflicting classifications of pathogenicity ANLN-related disorder, ANLN-related disorder
RS150551465 IL10RA Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS150552517 ADAMTS9 Health Risk Conflicting classifications of pathogenicity —
RS150552664 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 1
RS150552809 CLPB Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria, type VIIB
RS150554265 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS150554352 MANBA Health Risk Conflicting classifications of pathogenicity Beta-D-mannosidosis, MANBA-related disorder
RS150554808 NHS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nance-Horan syndrome
RS150555106 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, PCCB-related disorder
RS150555123 ACAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150556220 CHRNG Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome
RS150556863 SLC39A13 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylocheirodysplastic type
RS150556877 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS150557072 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS150557210 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS150557228 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS150558419 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS150558493 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS150559384 LAMC3 Health Risk Conflicting classifications of pathogenicity —
RS150560046 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS150562772 FOXRED1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150562892 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS150562946 PRKN Health Risk Conflicting classifications of pathogenicity Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
RS150564614 SMS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150565988 HADHA Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS150566697 TGM6 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35, Spinocerebellar ataxia type 35
RS150567400 POMGNT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS150567427 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1C
RS150567578 ANKS6 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Inborn genetic diseases
RS150567662 FRAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fraser syndrome 1
RS150568356 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS150569155 COQ8A Health Risk Conflicting classifications of pathogenicity —
RS150569450 KNL1 Health Risk Conflicting classifications of pathogenicity Microcephaly 4, primary
RS150569584 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Hereditary cancer-predisposing syndrome
RS150570281 PGAM2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type X, PGAM2-related disorder
RS150571352 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Intellectual disability
RS150571615 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH8-related disorder
RS150571620 COL9A1 Health Risk Conflicting classifications of pathogenicity —
RS150572069 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, SH3BP2-related disorder
RS150572286 PLA2G6 Health Risk Conflicting classifications of pathogenicity PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy
RS150572711 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS150572999 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
RS150573530 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS150574045 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, GRIN2A-related complex neurodevelopmental disorder
RS150575961 ABCC2 Health Risk Conflicting classifications of pathogenicity ABCC2-related disorder, Dubin-Johnson syndrome
RS150576530 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Congenital long QT syndrome
RS150576537 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Congenital Muscular Dystrophy
RS150576611 VWF Health Risk Conflicting classifications of pathogenicity —
RS150576702 DNAJC21 Health Risk Pathogenic Inherited bone marrow failure syndrome, Bone marrow failure syndrome 3
RS150577656 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS150577739 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS150577828 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS150578416 WDR35 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS150578902 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Congenital Muscular Dystrophy
RS150579291 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS150579345 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS150581033 TPRN Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 79, Autosomal recessive nonsyndromic hearing loss 79
RS150582627 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS150583536 RNASEH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150583876 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), DNAJB6-related disorder
RS150584105 GHR Health Risk Conflicting classifications of pathogenicity —
RS150584960 ERCC1 Health Risk Likely pathogenic Cerebrooculofacioskeletal syndrome 4, Cerebrooculofacioskeletal syndrome 4
RS150585977 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS150586098 WHRN Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 31, WHRN-related disorder
RS150586616 SERPINH1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 10, Osteogenesis imperfecta type 10
RS150587104 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS150587582 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS150589115 PTPN23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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