Annotation Detail
Information
- Associated Genes
- XRCC3
- Associated Variants
-
XRCC3 p.Thr241Met (p.T241M), KLC1 c.1849-1239G>A
(
ENST00000555836.5,
ENST00000554280.5,
ENST00000557450.5,
ENST00000348520.10,
ENST00000554913.5,
ENST00000553264.5,
ENST00000555055.6,
ENST00000352127.11,
ENST00000334553.11,
ENST00000554974.5,
ENST00000452929.6 )
XRCC3 c.194-571A>G ( ENST00000348520.10, ENST00000554913.5, ENST00000554974.5, ENST00000553264.5, ENST00000352127.11, ENST00000555055.6 )
rs1799794 ( ENST00000554913.5, ENST00000348520.10, ENST00000554974.5, ENST00000352127.11, ENST00000555055.6 )
MTHFR p.Glu470Ala (p.E470A) ( ENST00000376590.9, ENST00000641407.1, ENST00000376592.6, ENST00000376585.6, ENST00000376583.7, ENST00000641820.1, ENST00000423400.7 )
XRCC3 p.Thr241Met (p.T241M), KLC1 c.1849-1239G>A ( ENST00000334553.11, ENST00000348520.10, ENST00000452929.6, ENST00000554280.5, ENST00000555836.5, ENST00000557450.5, ENST00000352127.11, ENST00000553264.5, ENST00000554913.5, ENST00000554974.5, ENST00000555055.6 )
XRCC3 c.194-571A>G ( ENST00000348520.10, ENST00000352127.11, ENST00000553264.5, ENST00000554913.5, ENST00000554974.5, ENST00000555055.6 )
rs1799794 ( ENST00000348520.10, ENST00000352127.11, ENST00000554913.5, ENST00000554974.5, ENST00000555055.6 )
MTHFR p.Glu470Ala (p.E470A) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 ) - Associated Disease
- stomach carcinoma
- Source Database
- DisGeNET
- Description
- In R0 resected patients, XRCC3 variants (rs861539, P = 0.04; rs861530, P = 0.02) in esophageal cancer, and XRCC3 (rs1799794, P = 0.02) and MTHFR (rs1801131, P = 0.005) in gastric cancer predicted survival.
- Pubmed
- 21347786
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00271441872080303
- Year of publication
- 2011
Drugs