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
RS200203460 CLPB Health Risk Pathogenic 3-methylglutaconic aciduria, type VIIB
RS200203879 DNAH17 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DNAH17-related disorder
RS200203979 CACNA1G Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 42, Inborn genetic diseases
RS200204126 MYLK2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS200204286 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS200204458 NBEAL2 Health Risk Conflicting classifications of pathogenicity NBEAL2-related disorder, Inborn genetic diseases
RS200204526 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS200204560 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200204656 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, Factor V deficiency
RS200204761 TTN Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200204811 ARHGAP31 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 1, Inborn genetic diseases
RS200204857 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal dominant polycystic liver disease
RS200204976 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS200205042 GSDME Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5
RS200205441 ARHGAP31 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ARHGAP31-related disorder
RS200205564 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS200205650 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS200205997 GRIA4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200206105 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS200206252 SLC5A1 Health Risk Pathogenic Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS200206423 PLD1 Health Risk Pathogenic/Likely pathogenic Cardiac valvular defect, developmental
RS200206447 SGCG Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS200206736 C1QC Health Risk Pathogenic C1Q deficiency, C1Q deficiency
RS200206750 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS200206944 FLNC Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS200207376 ARCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200207404 PTH1R Health Risk Conflicting classifications of pathogenicity Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia
RS200207652 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS200207753 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
RS200207978 COL7A1 Health Risk Conflicting classifications of pathogenicity —
RS200208000 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS200208121 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS200208525 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS200208769 BFSP2 Health Risk Conflicting classifications of pathogenicity Cataract 12 multiple types, Cataract 12 multiple types
RS200209279 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS200209324 TPR Health Risk Conflicting classifications of pathogenicity —
RS200209747 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS200209833 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS200210006 GRM6 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS200210055 GOSR2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 6
RS200210219 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS200210279 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS200210415 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS200210516 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS200210826 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS200211438 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS200211587 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis
RS200212002 KCND3 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
RS200212083 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS200212137 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS200212229 AUH Health Risk Pathogenic 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS200212521 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS200212822 BCAP31 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200212920 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Inborn genetic diseases
RS200212999 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS200213078 ARHGAP24 Health Risk Conflicting classifications of pathogenicity ARHGAP24-related disorder, ARHGAP24-related disorder
RS200213555 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS200213584 ROM1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS200213585 CPAP Health Risk Pathogenic —
RS200213832 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200214266 PKD1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS200214298 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS200214627 ATP8B1 Health Risk Conflicting classifications of pathogenicity —
RS200215156 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS200215171 EOMES Health Risk Conflicting classifications of pathogenicity Microcephaly-polymicrogyria-corpus callosum agenesis syndrome, Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
RS200215340 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS200215464 OTOG Health Risk Conflicting classifications of pathogenicity —
RS200215551 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS200215596 CDK4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS200215904 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2A (Zellweger), Peroxisome biogenesis disorder 2B
RS200216295 PTCH2 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS200216579 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200216644 IHH Health Risk Conflicting classifications of pathogenicity Brachydactyly type A1, Brachydactyly type A1
RS200216795 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200216941 ANKH Health Risk Conflicting classifications of pathogenicity Chondrocalcinosis 2, Craniometaphyseal dysplasia
RS200217112 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa
RS200217334 DHCR24 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200217946 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS200218511 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS200218585 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS200218631 ANK3 Health Risk Conflicting classifications of pathogenicity —
RS200218954 TECTA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200218956 GABRA1 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Epilepsy
RS200219135 CARMIL2 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARMIL2 deficiency, Severe combined immunodeficiency due to CARMIL2 deficiency
RS200219313 SLC25A15 Health Risk Conflicting classifications of pathogenicity Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, SLC25A15-related disorder
RS200219373 CCBE1 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1
RS200219480 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS200219778 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS200219927 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS200219952 VEGFC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200220130 ATF6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200220418 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS200220646 PRICKLE2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy
RS200220791 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS200220845 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS200220848 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS200220863 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS200221082 CEP135 Health Risk Pathogenic CEP135-related disorder, CEP135-related disorder
RS200221163 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS200221194 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
« Prev 1 ... 1417 1418 1419 1420 1421 1422 1423 ... 4509 Next »

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

Get Started Free →