Annotation Detail

Information
Associated Genes
MTHFR
Associated Variants
MTHFR p.Glu474Ala (p.E474A) ( ENST00000376592.6, ENST00000641407.1, ENST00000376590.9, ENST00000423400.7, ENST00000641820.1, ENST00000376583.7, ENST00000376585.6 )
MTRR p.Ile22Met (p.I22M) ( ENST00000264668.6, ENST00000440940.7 )
MTHFR p.Glu474Ala (p.E474A) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTRR p.Ile22Met (p.I22M) ( ENST00000264668.6, ENST00000440940.7 )
Associated Disease
Pregnancy Complications
Source Database
DisGeNET
Description
This study aimed to detect the genotype distributions and allele frequencies of methylenetetrahydrofolate reductase (MTHFR) C677T, A1298C and methionine synthase reductase (MTRR) A66G polymorphisms of pregnant women in Jiaodong region in China, and to investigate whether folic acid supplementation affect the pregnancy complications.
Pubmed
25634728
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0317475625999728
Year of publication
2014
Drugs