Annotation Detail
Information
- Associated Genes
- MTR
- Associated Variants
-
MTR p.Val248Met (p.V248M)
(
ENST00000366577.10,
ENST00000535889.6,
ENST00000681177.1,
ENST00000681102.1,
ENST00000674797.2,
ENST00000679842.1 )
MTR p.Val248Leu (p.V248L) ( ENST00000674797.2, ENST00000679842.1, ENST00000681102.1, ENST00000535889.6, ENST00000366577.10, ENST00000681177.1 )
MTR p.Asp919Gly (p.D919G) ( ENST00000366577.10, ENST00000535889.6, ENST00000681177.1, ENST00000681102.1, ENST00000679842.1, ENST00000674797.2 )
MTR p.Val248Met (p.V248M) ( ENST00000366577.10, ENST00000535889.6, ENST00000674797.2, ENST00000679842.1, ENST00000681102.1, ENST00000681177.1 )
MTR p.Val248Leu (p.V248L) ( ENST00000366577.10, ENST00000535889.6, ENST00000674797.2, ENST00000679842.1, ENST00000681102.1, ENST00000681177.1 )
MTR p.Asp919Gly (p.D919G) ( ENST00000366577.10, ENST00000535889.6, ENST00000674797.2, ENST00000679842.1, ENST00000681102.1, ENST00000681177.1 ) - Associated Disease
- congenital heart defects
- Source Database
- DisGeNET
- Description
- Analyses of the study data provided marginal evidence that the maternal MTR A2756G (unadjusted p = 0.01) and the inherited BHMT G742A (unadjusted p = 0.06) genotypes influence the risk of this subset of CHDs.
- Pubmed
- 19777601
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0103683299224339
- Year of publication
- 2010
Drugs