SNP Directory

400,964 genetic variants in our database.

Clear
All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS939569468 DNAI1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Kartagener syndrome
RS939612648 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS939633265 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS939633955 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS939641251 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS939642675 TXNRD2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS939646611 RNPC3 Health Risk Pathogenic Decreased response to growth hormone stimulation test, Isolated growth hormone deficiency
RS939660584 AIPL1 Health Risk Likely pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS939669886 KIAA0586 Health Risk Likely pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS939722027 IFT140 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Saldino-Mainzer syndrome
RS939755872 SLC26A4 Health Risk Conflicting classifications of pathogenicity —
RS939779373 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS939793375 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS939795867 MANBA Health Risk Conflicting classifications of pathogenicity Beta-D-mannosidosis, Inborn genetic diseases
RS939799061 DDHD2 Health Risk Pathogenic Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54
RS939857891 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS9398723 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 5
RS939876800 ABAT Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS939923485 SLC35A2 Health Risk Conflicting classifications of pathogenicity SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS939932729 RP1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS939943472 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS939947819 SH2B3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer, Inborn genetic diseases
RS939986376 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS940016371 LAMA3 Health Risk Likely pathogenic —
RS940044560 ZNF469 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Cardiovascular phenotype
RS940057866 UNC80 Health Risk Pathogenic/Likely pathogenic Hypotonia, infantile
RS940080676 RMRP Health Risk Pathogenic/Likely pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS940085400 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS940141048 B4GALT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS940169046 HNF4A Health Risk Conflicting classifications of pathogenicity Familial hyperinsulinism, Maturity-onset diabetes of the young type 1
RS940175403 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS940178682 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS940187828 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS940287917 UMOD Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 1, Inborn genetic diseases
RS940292214 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS940296193 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS940319528 HPS6 Health Risk Pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS940322134 SLC12A3 Health Risk Pathogenic —
RS940323919 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS940325244 KMT2A Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Wiedemann-Steiner syndrome
RS940346413 DOK7 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS940391887 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS940443692 TMEM216 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 2
RS940460024 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS940471335 ABCC8 Health Risk Pathogenic —
RS940473416 COL6A1 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS940482154 SOX10 Health Risk Pathogenic PCWH syndrome, PCWH syndrome
RS940485051 AIRE Health Risk Pathogenic/Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS940562603 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS940576720 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS940581106 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS9406328 THBS2 Health Risk Benign; risk factor Lumbar disk herniation, susceptibility to
RS940642841 COL27A1 Health Risk Pathogenic —
RS940692104 UNC80 Health Risk Pathogenic —
RS940758517 PKD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, PKD2-related disorder
RS940829650 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Inborn genetic diseases
RS940845256 SDHA Health Risk Pathogenic/Likely pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS940848278 KMT2D Health Risk Likely pathogenic Male infertility with spermatogenesis disorder, Male infertility with spermatogenesis disorder
RS940854113 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, CACNA1C-related disorder
RS940938678 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS940941896 DGUOK Health Risk Pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Portal hypertension
RS940955642 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS940957113 GPR179 Health Risk Pathogenic —
RS941024653 FAM149B1 Health Risk Likely pathogenic Joubert syndrome 36, Joubert syndrome 36
RS941026356 DUOX2 Health Risk Likely pathogenic —
RS941116789 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, Cardiovascular phenotype
RS941166157 F11 Health Risk Likely pathogenic F11-related disorder, F11-related disorder
RS941174282 COL9A1 Health Risk Pathogenic —
RS941175056 EMC1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS941181575 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS941182270 RETREG1 Health Risk Pathogenic —
RS941190653 SYN1 Health Risk Likely pathogenic Intellectual disability, X-linked 50
RS941230062 ZFYVE26 Health Risk Pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS941244697 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS941268998 TP63 Health Risk Pathogenic/Likely pathogenic —
RS941273260 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS941281903 PIK3R2 Health Risk Conflicting classifications of pathogenicity Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
RS941318584 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS941325374 DNMT3A Health Risk Pathogenic —
RS941328238 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS941339684 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS941349850 CENPF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS941352340 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS941358133 PEX12 Health Risk Likely pathogenic Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
RS941407136 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS941409069 PLCE1 Health Risk Pathogenic Nephrotic syndrome, type 3
RS941433066 TCIRG1 Health Risk Likely pathogenic —
RS941483851 MMUT Health Risk Likely pathogenic Methylmalonic acidemia, Methylmalonic acidemia
RS941500711 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS941503814 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS941586004 FARSA Health Risk Pathogenic Rajab interstitial lung disease with brain calcifications 2, Rajab interstitial lung disease with brain calcifications 2
RS941656065 GBA2 Health Risk Likely pathogenic Hereditary spastic paraplegia 46, Spastic paraplegia
RS941660593 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS941664466 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS941666554 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS941670381 ASAH1 Health Risk Conflicting classifications of pathogenicity —
RS941685349 CBS Health Risk Conflicting classifications of pathogenicity HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS941689476 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS941713150 DNAJB11 Health Risk Pathogenic Polycystic kidney disease 6 with or without polycystic liver disease, Polycystic kidney disease 6 with or without polycystic liver disease
RS941714381 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
« Prev 1 ... 3980 3981 3982 3983 3984 3985 3986 ... 4010 Next »

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

Get Started Free →