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
RS751259935 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS751261054 BAG3 Health Risk Likely pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS751261543 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS751262117 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases
RS751262177 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS751263307 SI Health Risk Pathogenic/Likely pathogenic Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS751263352 ADGRE2 Health Risk Conflicting classifications of pathogenicity —
RS751263539 STAG1 Health Risk Likely pathogenic Global developmental delay, Global developmental delay
RS751264236 EPCAM Health Risk Pathogenic Colonic neoplasm, Colonic neoplasm
RS751264690 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, TBX1-related disorder
RS751266148 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS751269562 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS751270131 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751270801 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS751270928 WFS1 Health Risk Uncertain significance/Uncertain risk allele Diabetes mellitus, Wolfram syndrome 1
RS751270981 RARS2 Health Risk Likely pathogenic —
RS751271722 CDH2 Health Risk Conflicting classifications of pathogenicity —
RS751272610 CHRNB2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS751273046 CHKB Health Risk Conflicting classifications of pathogenicity Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS751274009 NDRG1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS751274265 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS751274314 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS751274973 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome 4
RS751275854 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS751276927 KCNE2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 6, Cardiovascular phenotype
RS751277203 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, CEP164-related disorder
RS751278435 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS751278507 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS751278539 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 4, Left ventricular noncompaction 10
RS751278964 KMT2E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751279776 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS751279984 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS751279985 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS751280060 RHO Health Risk Pathogenic —
RS751280698 ADA2 Health Risk Pathogenic —
RS751280804 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cholestanol storage disease
RS751280813 GJB3 Health Risk Conflicting classifications of pathogenicity Erythrokeratodermia variabilis et progressiva 1, Inborn genetic diseases
RS751280996 PIBF1 Health Risk Likely pathogenic Joubert syndrome 33, Joubert syndrome 33
RS751281792 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, NTRK1-related disorder
RS751283321 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS751283440 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS751285545 ACAN Health Risk Conflicting classifications of pathogenicity —
RS751286556 VWF Health Risk Pathogenic/Likely pathogenic Hereditary von Willebrand disease, VWF-related disorder
RS751286806 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS751287194 KCNQ5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751287220 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS751287778 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS751288871 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS751290466 VCP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS751290509 WDR19 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Asphyxiating thoracic dystrophy 5
RS751291521 AFG2A Health Risk Pathogenic/Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS751292488 MTMR2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS751292739 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS751292948 ERCC6 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 2, Inborn genetic diseases
RS751293273 SLC1A4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751293870 PKD1 Health Risk Conflicting classifications of pathogenicity PKD1-related disorder, Polycystic kidney disease
RS751294162 MTFMT Health Risk Likely pathogenic —
RS751295864 VPS13C Health Risk Conflicting classifications of pathogenicity —
RS75129664 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, ITGB4-related disorder
RS751298016 TRMT1 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal recessive 68
RS751299130 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, 7 conditions
RS751299342 CDK13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751301709 SOX18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hypotrichosis-lymphedema-telangiectasia syndrome
RS751303205 CRB1 Health Risk Pathogenic Pigmented paravenous retinochoroidal atrophy, Retinitis pigmentosa 12
RS751303913 AHI1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Joubert syndrome
RS751305758 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS75130648 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS751306953 ECHS1 Health Risk Pathogenic —
RS751307227 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS751308379 LZTR1 Health Risk Pathogenic/Likely pathogenic Noonan syndrome 2, Noonan syndrome 10
RS751309143 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS751309268 TMEM67 Health Risk Pathogenic Joubert syndrome 6, 6 conditions
RS751309672 PNPT1 Health Risk Pathogenic —
RS751309721 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS751309779 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS751310320 SETD5 Health Risk Pathogenic/Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS751310382 BUB1 Health Risk Conflicting classifications of pathogenicity —
RS751311194 TTC7A Health Risk Pathogenic Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1
RS751311313 GP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751314374 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Retinal dystrophy
RS751315158 NARS2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS751316145 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS751316870 FASTKD2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation deficiency 44, Combined oxidative phosphorylation deficiency 44
RS751317107 ECEL1 Health Risk Conflicting classifications of pathogenicity See cases, Distal arthrogryposis type 5D
RS751317621 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS751318305 AUH Health Risk Pathogenic 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS751318609 TTN Health Risk Conflicting classifications of pathogenicity —
RS751318725 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS751319164 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS751319688 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS751319893 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS751320202 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS751321300 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS751323115 TRPC6 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 2, Focal segmental glomerulosclerosis 2
RS751323441 DYNC2I2;SPTAN1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Short-rib thoracic dysplasia 11 with or without polydactyly
RS751324313 DEAF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751324720 NPR2 Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 1, Maroteaux type
RS751325113 VMA22 Health Risk Pathogenic CCDC115-CDG, Congenital disorders of glycosylation type II
RS751325508 LRP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751325519 COL7A1 Health Risk Pathogenic —
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