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
RS760842663 EIF2AK4 Health Risk Pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS760843515 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS760845108 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS760845605 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS760846085 COL4A3 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS760846327 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Majeed syndrome
RS760846678 HSD3B2 Health Risk Pathogenic/Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS760848629 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS760850357 STARD8 Health Risk Conflicting classifications of pathogenicity —
RS760851221 SLC35B2 Health Risk Pathogenic Primary bone dysplasia with multiple joint dislocations, Leukodystrophy
RS760851623 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS760851760 TPRN Health Risk Pathogenic/Likely pathogenic —
RS760851896 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS760851899 CPS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital hyperammonemia
RS760852526 AASS Health Risk Pathogenic —
RS760853089 MYO15A Health Risk Pathogenic/Likely pathogenic —
RS760854242 DNMT3A Health Risk Conflicting classifications of pathogenicity Intellectual disability, Tatton-Brown-Rahman overgrowth syndrome
RS760854665 OCA2 Health Risk Pathogenic —
RS760855321 MTTP Health Risk Pathogenic/Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS760855822 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS760858147 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS760858249 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS760858324 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS760858743 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS760858792 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 3, Joubert syndrome
RS760860681 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta with normal sclerae, dominant form
RS760861011 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS760861487 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS760864137 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS760864668 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS760865008 CBL Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype
RS760865854 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS760866131 MYO3A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 30, Sensorineural hearing loss disorder
RS760867012 XPC Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group C
RS760867838 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS760869074 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS760870713 PHEX Health Risk Pathogenic/Likely pathogenic Thyroid cancer, nonmedullary
RS76087194 RET Health Risk risk factor Hirschsprung disease, susceptibility to
RS760872485 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS760872938 GYG1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease XV, Polyglucosan body myopathy type 2
RS760872955 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS760873029 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS760874290 TSHR Health Risk Likely pathogenic Familial gestational hyperthyroidism, Ovarian cancer
RS760875006 MMAA Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria, cblA type
RS760876430 STX1B Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 9
RS760878957 CSF1R Health Risk Conflicting classifications of pathogenicity —
RS760879574 PLCD1 Health Risk Likely pathogenic PLCD1-related disorder, PLCD1-related disorder
RS760880148 CLTC Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 56
RS760880418 CYP11B1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, CYP11B1-related disorder
RS760880622 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS760880632 NKX2-1 Health Risk Pathogenic/Likely pathogenic Hereditary ataxia, Chorea
RS760881424 TPK1 Health Risk Conflicting classifications of pathogenicity Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
RS760881963 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, MCCC2-related disorder
RS760884555 CTC1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS760884573 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS760885026 IL1RN Health Risk Conflicting classifications of pathogenicity Sterile multifocal osteomyelitis with periostitis and pustulosis, Autoinflammatory syndrome
RS760885240 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS760885614 TNFRSF13B Health Risk Pathogenic Immunodeficiency, common variable
RS760885908 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS760886281 APOA1 Health Risk Conflicting classifications of pathogenicity Familial visceral amyloidosis, Ostertag type
RS760886366 WDR87 Health Risk Conflicting classifications of pathogenicity —
RS760886419 TGM6 Health Risk Conflicting classifications of pathogenicity —
RS760886915 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS760888275 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS760888982 CNGB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760889414 MTHFD1 Health Risk Pathogenic Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
RS760889663 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS760889798 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS760889909 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS760889956 SLC30A10 Health Risk Conflicting classifications of pathogenicity Hypermanganesemia with dystonia, polycythemia
RS760890029 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS760890625 FRAS1 Health Risk Pathogenic —
RS760890681 CNKSR2 Health Risk Conflicting classifications of pathogenicity —
RS760891216 COL7A1 Health Risk Likely pathogenic Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS760892123 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, See cases
RS760892654 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS760893545 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS760894269 VPS33B Health Risk Conflicting classifications of pathogenicity Arthrogryposis, renal dysfunction
RS760894841 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS760894879 NEK1 Health Risk Likely pathogenic NEK1-related disorder, NEK1-related disorder
RS760895143 TYK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Immunodeficiency 35
RS760895692 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS760896048 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS760896684 OTOF Health Risk Conflicting classifications of pathogenicity —
RS760897331 PTPRM Health Risk Conflicting classifications of pathogenicity —
RS760897880 HPS4 Health Risk Pathogenic —
RS760898762 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS760899584 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS760900648 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS760901300 LIPA Health Risk Likely pathogenic Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency
RS760901724 SUOX Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency, Sulfocysteinuria
RS760902072 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS760902564 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS760903716 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS760904028 FLG Health Risk Conflicting classifications of pathogenicity Ichthyosis vulgaris, Ichthyosis vulgaris
RS760904035 PLA2G6 Health Risk Likely pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS760905567 CTNS Health Risk Pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS760905651 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS760906091 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS760906097 CPLANE1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 17, CPLANE1-related disorder
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