SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS886039511 APC Health Risk Likely pathogenic —
RS886039512 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS886039513 TUBA1A Health Risk Pathogenic/Likely pathogenic Tubulinopathy, Cerebral palsy
RS886039515 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS886039516 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS886039517 SLC2A1 Health Risk Pathogenic/Likely pathogenic Encephalopathy due to GLUT1 deficiency, GLUT1 deficiency syndrome 1
RS886039518 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS886039519 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS886039520 SMARCB1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 15
RS886039522 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS886039523 CHD7 Health Risk Pathogenic —
RS886039524 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS886039526 CHD7 Health Risk Pathogenic CHD7-related CHARGE syndrome, CHD7-related CHARGE syndrome
RS886039527 CHD7 Health Risk Pathogenic —
RS886039528 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS886039529 SCN1A Health Risk Pathogenic Seizure, Seizure
RS886039530 ATP1A2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Familial hemiplegic migraine
RS886039531 NIPBL Health Risk Pathogenic —
RS886039532 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886039533 DMD Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS886039534 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886039535 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886039536 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Cardiomyopathy
RS886039537 PLP1 Health Risk Pathogenic Hereditary spastic paraplegia 2, Hereditary spastic paraplegia 2
RS886039539 JAG1 Health Risk Pathogenic Arteriohepatic dysplasia, Arteriohepatic dysplasia
RS886039540 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS886039541 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS886039542 COL2A1 Health Risk Likely pathogenic Spondylometaphyseal dysplasia - Sutcliffe type, Type 2 collagenopathy
RS886039543 COL2A1 Health Risk Pathogenic COL2A1-related disorder, COL2A1-related disorder
RS886039544 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS886039545 RPS24 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS886039546 STAT3 Health Risk Conflicting classifications of pathogenicity STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1
RS886039547 SPINK5 Health Risk Pathogenic —
RS886039548 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS886039549 FBN1 Health Risk Pathogenic —
RS886039550 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
RS886039551 TGFBR2 Health Risk Pathogenic/Likely pathogenic Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection
RS886039552 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation
RS886039553 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS886039554 STK11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS886039555 BTK Health Risk Pathogenic X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia
RS886039557 ACTA1 Health Risk Pathogenic/Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS886039558 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS886039559 CACNA1F Health Risk Pathogenic Aland island eye disease, Congenital stationary night blindness 2A
RS886039560 CACNA1F Health Risk Pathogenic Congenital stationary night blindness 2A, X-linked cone-rod dystrophy 3
RS886039561 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS886039562 COL7A1 Health Risk Pathogenic/Likely pathogenic 7 conditions, 7 conditions
RS886039563 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS886039564 EDAR Health Risk Pathogenic Autosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A
RS886039565 EXT2 Health Risk Pathogenic Exostoses, multiple
RS886039566 EXT2 Health Risk Pathogenic —
RS886039567 EXT2 Health Risk Pathogenic Exostoses, multiple
RS886039568 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS886039569 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS886039570 IRF6 Health Risk Pathogenic —
RS886039571 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS886039572 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS886039573 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS886039574 LMX1B Health Risk Pathogenic —
RS886039575 ZNF469 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS886039576 LMX1B Health Risk Pathogenic Nail-patella syndrome, Nail-patella syndrome
RS886039578 NSD1 Health Risk Pathogenic —
RS886039579 NSD1 Health Risk Pathogenic —
RS886039580 PHEX Health Risk Pathogenic —
RS886039581 PHEX Health Risk Pathogenic —
RS886039582 PHEX Health Risk Pathogenic —
RS886039583 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS886039584 PHEX Health Risk Pathogenic —
RS886039585 PHEX Health Risk Pathogenic —
RS886039586 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, Abnormality of the musculature
RS886039590 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS886039591 ATM Health Risk Likely pathogenic —
RS886039592 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS886039594 ARID1B Health Risk Likely pathogenic —
RS886039595 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS886039597 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS886039598 PEX26 Health Risk Likely pathogenic —
RS886039599 MED13L Health Risk Conflicting classifications of pathogenicity Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS886039600 CTCF Health Risk Likely pathogenic —
RS886039601 EZH2 Health Risk Likely pathogenic —
RS886039602 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, COL4A2-related disorder
RS886039603 GOSR2 Health Risk Likely pathogenic —
RS886039604 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS886039605 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS886039606 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS886039607 RAF1 Health Risk Pathogenic/Likely pathogenic LEOPARD syndrome 2, Noonan syndrome 5
RS886039608 PRUNE1 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, hypotonia
RS886039609 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS886039610 PURA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS886039611 RTTN Health Risk Likely pathogenic —
RS886039612 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, 6 conditions
RS886039613 PALB2 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group N
RS886039614 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS886039615 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS886039616 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS886039618 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS886039619 PALB2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS886039620 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS886039621 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS886039623 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
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