Annotation Detail

Information
Associated Genes
MTRR
Associated Variants
MTRR p.Ile22Met (p.I22M) ( ENST00000264668.6, ENST00000440940.7 )
MTRR p.Ser175Leu (p.S175L) ( ENST00000264668.6, ENST00000440940.7 )
MTRR p.Ile22Met (p.I22M) ( ENST00000264668.6, ENST00000440940.7 )
MTRR p.Ser175Leu (p.S175L) ( ENST00000264668.6, ENST00000440940.7 )
Associated Disease
congenital heart defects
Source Database
DisGeNET
Description
A66G and C524T polymorphisms of the methionine synthase reductase gene are associated with congenital heart defects in the Chinese Han population.
Pubmed
22057956
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0159167194958788
Year of publication
2011
Drugs