Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
F2 c.*97G>A
(
ENST00000311907.10 )
MTHFR p.Ala263Val (p.A263V) ( ENST00000376585.6, ENST00000376583.7, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
F5 p.Gln534= (p.Q534=) ( ENST00000367796.3, ENST00000367797.9 )
FGG c.*216C>T
F13A1 p.Val35Leu (p.V35L) ( ENST00000264870.8 )
F13A1 p.Val35Met (p.V35M) ( ENST00000264870.8 )
MMP3 SNV
F2 c.*97G>A ( ENST00000311907.10 )
MTHFR p.Ala263Val (p.A263V) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
F5 p.Arg534Gln (p.R534Q) ( ENST00000367796.3, ENST00000367797.9 )
FGG c.*216C>T
F13A1 p.Val35Leu (p.V35L) ( ENST00000264870.8 )
F13A1 p.Val35Met (p.V35M) ( ENST00000264870.8 )
MMP3 SNV - Associated Disease
- colorectal cancer
- Source Database
- DisGeNET
- Description
- Factor V Leiden (rs6025), prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), fibrinogen gamma 10034C>T (rs2066865), and factor XIII Val34Leu (rs5985) were genotyped in 1,801 patients with colorectal cancer and 1,853 healthy controls from a large German population-based study.
- Pubmed
- 21422408
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.10687274533595
- Year of publication
- 2011
Drugs