SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS899526117 SIM1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS899555020 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS899627353 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, 6 conditions
RS899655295 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS899706506 VPS13C Health Risk Likely pathogenic —
RS899709021 SKIC2 Health Risk Likely pathogenic Trichohepatoenteric syndrome, Trichohepatoenteric syndrome
RS899712805 SPRED1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype
RS899735028 FLVCR1 Health Risk Pathogenic Inborn genetic diseases, Posterior column ataxia-retinitis pigmentosa syndrome
RS899737461 FGD4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS899747870 SAMD11 Health Risk Conflicting classifications of pathogenicity —
RS899764342 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS899778611 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 30
RS899815496 KLLN Health Risk Conflicting classifications of pathogenicity —
RS899831488 KIF7 Health Risk Likely pathogenic —
RS899851642 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS899858451 TBK1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS899872545 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS899895056 LIFR Health Risk Likely pathogenic —
RS899935666 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS899950389 MYO7A Health Risk Pathogenic —
RS900058084 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS900061092 TMEM216 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 2
RS900062138 COL18A1 Health Risk Likely pathogenic —
RS900082291 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS900084108 ACE Health Risk Pathogenic/Likely pathogenic Microvascular complications of diabetes, susceptibility to
RS900089672 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS900093826 ERCC4 Health Risk Pathogenic Xeroderma pigmentosum, group F
RS900100444 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS900105227 VCP Health Risk Pathogenic Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS900140738 TP63 Health Risk Pathogenic Premature ovarian insufficiency, Premature ovarian failure 21
RS900156643 HSPG2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS900164978 CDK13 Health Risk Conflicting classifications of pathogenicity —
RS900174205 KAT6A Health Risk Conflicting classifications of pathogenicity Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS900191703 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS900198526 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS900216804 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS900228710 ADGRV1 Health Risk Pathogenic/Likely pathogenic ADGRV1-related disorder, ADGRV1-related disorder
RS900267221 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS900334407 HGF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 39, Autosomal recessive nonsyndromic hearing loss 39
RS900431442 PPOX Health Risk Pathogenic Variegate porphyria, childhood-onset
RS900442449 ADAMTS15 Health Risk Pathogenic Arthrogryposis, distal
RS900492387 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS900496106 DNAAF5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS900545157 NF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS900547 NR2E3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 37, Retinitis pigmentosa
RS900599017 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS900604900 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS900625437 GDF1 Health Risk Likely pathogenic Congenital heart defects, multiple types
RS900634939 PCARE Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS900664088 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS900677485 TMEM67 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 3
RS900734076 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS900747631 MYO15A Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS900752773 SEC23B Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II
RS900762841 POMT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS900768678 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS900769357 NIPAL4 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
RS900832969 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS900870796 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS900871740 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS900882465 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS900907976 VWF Health Risk Likely pathogenic —
RS900977276 TOR1AIP1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
RS900991986 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS901032025 MLIP Health Risk Pathogenic Myopathy with myalgia, increased serum creatine kinase
RS901038678 SLC12A1 Health Risk Pathogenic —
RS901089989 RAG1 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS901109960 SETX Health Risk Likely pathogenic —
RS901152873 ADAMTSL2 Health Risk Conflicting classifications of pathogenicity Geleophysic dysplasia 1, Geleophysic dysplasia 1
RS901153300 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS901163374 PKD1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS901182419 NPHP3 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Joubert syndrome and related disorders
RS901197333 TTN Health Risk Conflicting classifications of pathogenicity —
RS901360414 ERCC6 Health Risk Pathogenic/Likely pathogenic —
RS901441145 HERC1 Health Risk Conflicting classifications of pathogenicity Macrocephaly, dysmorphic facies
RS901474571 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS901479607 PRPH2 Health Risk Likely pathogenic PRPH2-related disorder, PRPH2-related disorder
RS901489977 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Isolated Nonsyndromic Congenital Heart Disease
RS901491798 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS901499998 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS901508284 KIAA0586 Health Risk Pathogenic/Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS901508820 NEK9 Health Risk Pathogenic —
RS901512521 SMC3 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS901526282 GRIN2D Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 46
RS901607947 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS901629870 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS901636863 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS901644807 IFT172 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS901660662 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS901679452 CAMK2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS901680614 NAA15 Health Risk Conflicting classifications of pathogenicity —
RS901701142 MFRP Health Risk Likely pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS901711895 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, MSH3-related disorder
RS901717931 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS901732635 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS901733146 POLR2C Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS901764287 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS901778260 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS901779500 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS901786175 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
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