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
RS745570426 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS745571507 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS745571683 CDH23 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Usher syndrome type 1
RS745571736 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS745571898 FSIP2 Health Risk Likely pathogenic Spermatogenic failure 34, Spermatogenic failure 34
RS745573222 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, OCA2-related disorder
RS745573372 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS745574120 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS745574548 COL7A1 Health Risk Conflicting classifications of pathogenicity —
RS745574784 FAM161A Health Risk Pathogenic —
RS745575483 KCNT1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy
RS745576236 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Inborn genetic diseases
RS745578045 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS745578837 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS745580319 AP4B1 Health Risk Pathogenic Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS745580526 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS745580589 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS745582203 G6PC3 Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS745583389 DLL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745583559 HTT Health Risk Pathogenic —
RS745584505 MARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
RS745585519 DMD Health Risk Pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS745585873 CLRN1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 61, Retinitis pigmentosa 61
RS745586435 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS745587834 TLCD3B Health Risk Pathogenic Cone-rod dystrophy 22, Cone-rod dystrophy 22
RS745590123 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS745590324 TERT Health Risk Likely pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS745590426 ATP6V0A2 Health Risk Pathogenic/Likely pathogenic ALG9 congenital disorder of glycosylation, Cutis laxa
RS745590718 KCNT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant nocturnal frontal lobe epilepsy 5
RS745590895 SLC26A2 Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 4, Achondrogenesis
RS745592082 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS745592705 CNGA3 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS745594160 APRT Health Risk Conflicting classifications of pathogenicity Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS745594303 HPDL Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS745594354 NANS Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia, Genevieve type
RS745594874 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Inborn genetic diseases
RS745595242 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS745595462 GAD1 Health Risk Pathogenic Developmental and epileptic encephalopathy 89, Developmental and epileptic encephalopathy 89
RS745595833 YARS2 Health Risk Pathogenic/Likely pathogenic Myopathy, lactic acidosis
RS745597127 NHS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nance-Horan syndrome
RS745597204 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Congenital anomaly of kidney and urinary tract
RS745597535 ZNF423 Health Risk Conflicting classifications of pathogenicity Abnormal brain morphology, Nephronophthisis 14
RS745598716 NUP188 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745598788 PCNT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PCNT-related disorder
RS745599370 SGCG Health Risk Conflicting classifications of pathogenicity —
RS745599611 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS745601745 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS745603321 WDR19 Health Risk Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 5
RS745603844 CEP135 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS745604189 CD36 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS745604417 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS745604653 MLYCD Health Risk Conflicting classifications of pathogenicity Deficiency of malonyl-CoA decarboxylase, MLYCD-related disorder
RS745607005 PDHA1 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-alpha deficiency, Inborn genetic diseases
RS745608560 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, See cases
RS745609349 SP7 Health Risk Likely pathogenic Osteogenesis imperfecta type 12, Osteogenesis imperfecta type 12
RS745609580 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS745609654 KCNT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS745610059 GTPBP2 Health Risk Pathogenic Jaberi-Elahi syndrome, Jaberi-Elahi syndrome
RS745612436 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS745612845 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS745613994 FIG4 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 11, Charcot-Marie-Tooth disease type 4J
RS745614158 USH2A Health Risk Conflicting classifications of pathogenicity —
RS745614655 MYH14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745616771 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS745617052 RTTN Health Risk Conflicting classifications of pathogenicity —
RS745617145 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, FH-related disorder
RS745617885 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS745618641 DLL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745619253 COQ2 Health Risk Conflicting classifications of pathogenicity —
RS745619898 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, Finnish type amyloidosis
RS745620101 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS745622138 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS745622612 USH1C Health Risk Pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS745624228 TPRN Health Risk Pathogenic —
RS745624953 ARG1 Health Risk Pathogenic/Likely pathogenic Arginase deficiency, Arginase deficiency
RS745625855 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS745626132 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS745626388 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS745626507 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone methyl oxidase type II deficiency, Corticosterone 18-monooxygenase deficiency
RS745626835 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS745627109 UNC45A Health Risk Conflicting classifications of pathogenicity Osteootohepatoenteric syndrome, Osteootohepatoenteric syndrome
RS745627738 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS745627867 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS745628463 SLC34A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS745629936 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS745630370 TMEM126B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS745630993 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS745632282 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS745633046 ACSF3 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS745633496 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, COL2A1-related disorder
RS745638170 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS745638189 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS745638752 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial colorectal cancer type X
RS745638837 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS745639179 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS745639930 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS745640577 KL Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS745640752 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS745640786 DMD Health Risk Pathogenic Cardiovascular phenotype, Duchenne muscular dystrophy
RS745640894 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
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