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
RS775224246 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS775224457 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS775224480 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS775224495 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
RS775225240 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS775225569 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Ovarian cancer
RS775225727 AUTS2;CT66 Health Risk Pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS775227254 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775228051 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS775228629 FAT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775230627 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS775230957 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS775231187 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, Inborn genetic diseases
RS775231905 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775232139 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS775232283 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS775234363 COX15 Health Risk Likely pathogenic —
RS775234705 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS775235892 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS775237084 MYBPC3 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4
RS775237858 XIAP Health Risk Conflicting classifications of pathogenicity X-linked lymphoproliferative disease due to XIAP deficiency, Thyroid cancer
RS775238949 ALB Health Risk Conflicting classifications of pathogenicity Hyperthyroxinemia, familial dysalbuminemic
RS775240101 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS775240118 RNASEH2C Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 3, Aicardi-Goutieres syndrome 3
RS775241177 NEXN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 20
RS775241983 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS775242103 TTN Health Risk Conflicting classifications of pathogenicity —
RS775244273 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS775244527 COL17A1 Health Risk Likely pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS775244752 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS775245244 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS775245806 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS775246283 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta, perinatal lethal
RS775247526 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS775248181 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS775248597 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast carcinoma
RS775248939 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS775250202 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS775250354 RFXAP Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency 4
RS775250788 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS775251483 COL17A1 Health Risk Pathogenic —
RS775251529 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS775251652 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS775252439 RLBP1 Health Risk Conflicting classifications of pathogenicity Newfoundland cone-rod dystrophy, Retinitis pigmentosa
RS775252822 DEAF1 Health Risk Pathogenic —
RS775253166 FLG Health Risk Pathogenic/Likely pathogenic —
RS775255820 AFG3L2 Health Risk Pathogenic Spastic ataxia 5, Spastic ataxia 5
RS775256289 YARS2 Health Risk Pathogenic Mitochondrial disease, Mitochondrial disease
RS775256658 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 6, Meckel-Gruber syndrome
RS775256998 DSG2 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS77525709 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS775257367 DCHS1 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 1, Van Maldergem syndrome 1
RS775257372 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Porencephaly 2
RS775257418 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS775259788 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS775260292 HSD3B7 Health Risk Likely pathogenic HSD3B7-related disorder, HSD3B7-related disorder
RS775260762 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS775261666 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS775262228 COL17A1 Health Risk Pathogenic —
RS775262289 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS775262372 CNGA3 Health Risk Likely pathogenic —
RS775263568 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS775263897 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Global developmental delay
RS775266057 RAD21 Health Risk Pathogenic Mungan syndrome, Mungan syndrome
RS775266788 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS775266949 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Porencephaly 2
RS775267348 NOTCH3 Health Risk Pathogenic/Likely pathogenic Myofibromatosis, infantile
RS775267638 LOXHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS775267651 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS775267971 CARD9 Health Risk risk factor Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS775268017 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS775268409 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS775269055 MICAL1 Health Risk Likely pathogenic Epilepsy, familial temporal lobe
RS775269863 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS775271588 CACNA1H Health Risk Likely pathogenic Abnormal brain morphology, Abnormal brain morphology
RS775272530 CBL Health Risk Likely pathogenic —
RS775272996 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS775273838 TGDS Health Risk Likely pathogenic Catel-Manzke syndrome, Catel-Manzke syndrome
RS775274159 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS775274391 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS775274569 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS775274710 ERCC6 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 2, Age related macular degeneration 5
RS775274847 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775275930 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS775276142 DGUOK Health Risk Conflicting classifications of pathogenicity —
RS775276995 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS775277584 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, Colorectal cancer
RS775277800 RTTN Health Risk Likely pathogenic Primary microcephaly, Microcephalic primordial dwarfism due to RTTN deficiency
RS775277935 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS775278003 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS775278280 CHD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS775279845 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS775280006 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS775280239 KDM5A Health Risk Conflicting classifications of pathogenicity Intellectual disability, Seizure
RS775281342 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS775281384 NPHP3 Health Risk Likely pathogenic Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1
RS775283020 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS775283269 BEST1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive bestrophinopathy, Retinal dystrophy
RS775284012 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS775284185 RSPH3 Health Risk Pathogenic Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32
« Prev 1 ... 3605 3606 3607 3608 3609 3610 3611 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →