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
RS565348874 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 8
RS565350549 SLC24A1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1D, Congenital stationary night blindness 1D
RS565355765 EGR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS565364572 IFT80 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS565364639 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS565372884 FANCF Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group F
RS565373304 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS565378672 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS565382144 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS565395435 NDUFS7 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS565397037 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS565398652 VCL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS565400314 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS565407240 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS565413020 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS565414568 SCN4A Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 2
RS565414938 CEP290 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 6, Meckel syndrome
RS565416040 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS565420289 SHANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS565423253 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS565424838 SKIC2 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS565425582 MUC16 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS565428379 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS565446762 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 14
RS565447853 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS565456094 SUCLA2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS565457964 CFHR5 Health Risk Conflicting classifications of pathogenicity CFHR5 deficiency, Kidney disorder
RS565458815 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS565471668 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS565474071 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS565496900 COL12A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS565502802 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy
RS565509522 GATM Health Risk Conflicting classifications of pathogenicity Arginine:glycine amidinotransferase deficiency, Inborn genetic diseases
RS565510675 CDAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Anemia
RS565512325 SPG11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary spastic paraplegia 11
RS565513365 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS565524160 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS565533397 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS565544512 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, CDKN1C-related disorder
RS565546734 VCL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1W
RS565556454 TP63 Health Risk Conflicting classifications of pathogenicity Ectrodactyly, ectodermal dysplasia
RS565563742 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS565573487 NLRC4 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS565574386 GJC2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS565576095 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS565582076 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS565594406 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome type 1
RS565601251 SETD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS565603169 KMT5B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 51
RS565607454 TONSL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS565610587 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Inborn genetic diseases
RS565611676 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS565622131 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS565629362 CPLANE1 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS565630360 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS565631391 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS565632539 ELN Health Risk Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS565638291 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS565642773 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS565663412 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, See cases
RS565665118 OTOG Health Risk Conflicting classifications of pathogenicity —
RS565666569 PTF1A Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome, Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
RS565675340 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS565675541 CA5A Health Risk Conflicting classifications of pathogenicity Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Inborn genetic diseases
RS565675570 PCLO Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 3, PCLO-related disorder
RS565676417 PGAP3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS565686460 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS565694087 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS565697340 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS565708396 TEX15 Health Risk Conflicting classifications of pathogenicity —
RS565708398 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS565711489 SLC5A6 Health Risk Pathogenic Neurodegeneration, infantile-onset
RS565711967 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS565714281 FN1 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS565719501 ICOS Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS565724504 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS565734208 KNL1 Health Risk Conflicting classifications of pathogenicity Microcephaly 4, primary
RS565743321 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS565744148 KCNH8 Health Risk Likely pathogenic Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome
RS565748824 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS565765056 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS565770950 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
RS565778005 TMEM237 Health Risk Pathogenic Joubert syndrome 14, Joubert syndrome 14
RS565779970 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS565781501 YARS2 Health Risk Conflicting classifications of pathogenicity Myopathy, lactic acidosis
RS565782662 SPINK5 Health Risk Pathogenic Netherton syndrome, Ichthyosis linearis circumflexa
RS565784637 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS565784910 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS565789183 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS565797493 POMGNT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS565817241 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Polydactyly
RS565819640 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS565823145 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS565824755 TTN Health Risk Conflicting classifications of pathogenicity —
RS565825739 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, Congenital myopathy with fiber type disproportion
RS565837539 RPGRIP1 Health Risk Pathogenic Abnormality of the eye, Cone-rod dystrophy 13
RS565840553 ABCC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS565852420 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS565864295 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS565866662 CYP26C1 Health Risk Conflicting classifications of pathogenicity Optic nerve hypoplasia, Focal facial dermal dysplasia type IV
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