Annotation Detail
Information
- Associated Genes
- MTHFD1
- Associated Variants
-
MTHFD1 p.Arg653Gln (p.R653Q)
(
ENST00000557539.2,
ENST00000697174.1,
ENST00000554768.6,
ENST00000697173.1,
ENST00000545908.6,
ENST00000557370.3,
ENST00000652337.1,
ENST00000697168.1 )
MTRR p.Ile22Met (p.I22M) ( ENST00000264668.6, ENST00000440940.7 )
MTHFD1 p.Arg653Gln (p.R653Q) ( ENST00000545908.6, ENST00000554768.6, ENST00000557370.3, ENST00000557539.2, ENST00000652337.1, ENST00000697168.1, ENST00000697173.1, ENST00000697174.1 )
MTRR p.Ile22Met (p.I22M) ( ENST00000264668.6, ENST00000440940.7 ) - Associated Disease
- Down syndrome
- Source Database
- DisGeNET
- Description
- In conclusion, our meta-analysis suggested that the MTRR c.66A>G (rs1801394) polymorphism and MTHFD1 c.1958G>A (rs2236225) were associated with increased maternal risk for DS.
- Pubmed
- 25544792
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00345279946692324
- Year of publication
- 2014
Drugs