Annotation Detail

Information
Associated Genes
CXCL8
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
0.0257223026308238
Year of publication
2008
Drugs