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
RS760104757 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS760105184 TG Health Risk Pathogenic —
RS760106433 HMGCL Health Risk Pathogenic/Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS760106468 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Papillary renal cell carcinoma type 1
RS760107623 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS760107868 ATP5F1A Health Risk Conflicting classifications of pathogenicity —
RS760108586 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS760108842 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS760108906 ADAMTSL4 Health Risk Pathogenic —
RS760109866 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS760109939 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS760113431 FEZF2 Health Risk Conflicting classifications of pathogenicity —
RS760114690 LRP2 Health Risk Likely pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS760116150 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS760118978 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS760120415 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS760121092 KMT2B Health Risk Conflicting classifications of pathogenicity KMT2B-related disorder, Inborn genetic diseases
RS760122001 PLEKHG5 Health Risk Pathogenic/Likely pathogenic Neuronopathy, distal hereditary motor
RS76012218 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS760122351 RSPH3 Health Risk Pathogenic Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32
RS760123011 GJB1 Health Risk Likely pathogenic —
RS760123202 DNAAF11 Health Risk Pathogenic Primary ciliary dyskinesia 19, Kartagener syndrome
RS760123492 AIMP2 Health Risk Likely pathogenic Leukodystrophy, hypomyelinating
RS760123810 DIS3L2 Health Risk Pathogenic/Likely pathogenic Perlman syndrome, Perlman syndrome
RS760124743 SCYL2 Health Risk Pathogenic Arthrogryposis multiplex congenita 4, neurogenic
RS760126706 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760126773 SLX4 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group P
RS760127339 HK1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS760127525 KCNH5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 112, Early-infantile DEE
RS760127618 FLNB Health Risk Conflicting classifications of pathogenicity —
RS760128108 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS760128307 MYH9 Health Risk Conflicting classifications of pathogenicity —
RS760128419 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS760130632 ARFGEF2 Health Risk Conflicting classifications of pathogenicity —
RS760131892 PNKP Health Risk Conflicting classifications of pathogenicity PNKP-related disorder, Developmental and epileptic encephalopathy
RS760132552 GATA2 Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS760132764 CASP8 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 2B, Autoimmune lymphoproliferative syndrome type 2B
RS760132893 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Cardiovascular phenotype
RS760134110 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS760134437 KARS1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 89, Autosomal recessive nonsyndromic hearing loss 89
RS760134475 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Nemaline myopathy 6
RS760134827 ALPL Health Risk Pathogenic Infantile hypophosphatasia, Hypophosphatasia
RS760135553 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS760137127 BNC1 Health Risk Likely pathogenic Premature ovarian failure, Premature ovarian failure
RS760137559 ANO5 Health Risk Pathogenic/Likely pathogenic Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle
RS760139097 CTNNA2 Health Risk Pathogenic Cortical dysplasia, complex
RS760139297 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS760139855 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760140187 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS760140366 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS760142268 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS760142269 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS760143724 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS760146269 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS760146707 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS760147008 CARMIL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CARMIL2-related disorder
RS760148430 CFI Health Risk Conflicting classifications of pathogenicity Factor I deficiency, Atypical hemolytic-uremic syndrome with I factor anomaly
RS760148486 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS760149463 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS760150539 FANCE Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS760150621 C3 Health Risk Conflicting classifications of pathogenicity Complement component 3 deficiency, Age related macular degeneration 9
RS760151423 LRP5 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS760152519 TJP2 Health Risk Conflicting classifications of pathogenicity TJP2-related disorder, TJP2-related disorder
RS760153204 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760153272 ABCB4 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 3
RS760153701 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS760155135 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS760155287 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS760155608 ATP1A2 Health Risk Pathogenic/Likely pathogenic Fetal akinesia, respiratory insufficiency
RS760156122 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS760157830 ANK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS76015786 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS760158148 TTLL5 Health Risk Pathogenic —
RS760158891 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS760161369 MTHFR Health Risk Pathogenic/Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS760161824 STING1 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Autoinflammatory syndrome
RS760163301 OPHN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760163489 FAM20A Health Risk Pathogenic Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
RS760164436 IFT80 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS760164631 GUCY2C Health Risk Conflicting classifications of pathogenicity Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency, Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
RS760165634 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, Retinal dystrophy
RS760166803 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS760167278 SC5D Health Risk Pathogenic Lathosterolosis, Lathosterolosis
RS760168563 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS760169139 SDHB Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Pheochromocytoma
RS760169730 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS760170429 NFIA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760170973 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS760171298 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS760171531 MAK Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 62, Retinitis pigmentosa 62
RS760171782 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS760174192 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS760174828 SMS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760175310 COL18A1 Health Risk Pathogenic —
RS760175948 IMPG1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS760176622 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS760178516 OTOF Health Risk Conflicting classifications of pathogenicity —
RS760179421 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, CTNNA1-related disorder
RS760180709 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS760181936 TYRP1 Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 3, MELANESIAN BLOND HAIR
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