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.Gly212= (p.G212=) ( ENST00000376585.6, ENST00000376583.7, ENST00000423400.7, ENST00000376590.9, ENST00000641407.1, ENST00000376592.6 )
PTGS1 p.Gly213= (p.G213=) ( ENST00000223423.8, ENST00000362012.7, ENST00000373698.7, ENST00000540753.6, ENST00000619306.5 )
MTHFR p.Glu470Ala (p.E470A) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Gly212= (p.G212=) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1 )
PTGS1 p.Gly213= (p.G213=) ( ENST00000223423.8, ENST00000362012.7, ENST00000373698.7, ENST00000540753.6, ENST00000619306.5 ) - Associated Disease
- colorectal cancer
- Source Database
- DisGeNET
- Description
- Three SNPs were shown to increase CRC risk: PTGS1 c.639C>A (p.Gly213Gly), IL8 c.-352T>A, and MTHFR c.1286A>C (p.Ala429Glu).
- Pubmed
- 18992148
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.10687274533595
- Year of publication
- 2008
Drugs