Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
MTHFR p.Glu470Ala (p.E470A)
(
ENST00000376590.9,
ENST00000641407.1,
ENST00000376592.6,
ENST00000376585.6,
ENST00000376583.7,
ENST00000641820.1,
ENST00000423400.7 )
MTHFR p.Glu470Ala (p.E470A) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 ) - Associated Disease
- multiple sclerosis
- Source Database
- DisGeNET
- Description
- The variant methylenetetrahydrofolate reductase c.1298A>C (p.E429A) is associated with multiple sclerosis in a German case-control study.
- Pubmed
- 19854238
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0108253372748096
- Year of publication
- 2010
Drugs