Annotation Detail
Information
- Associated Genes
- XRCC2
- 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 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
TMEM167A c.3+475C>A ( ENST00000502346.2 )
rs2040639
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 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
TMEM167A c.3+475C>A ( ENST00000502346.2 )
rs2040639 - Associated Disease
- Lip and oral cavity carcinoma
- Source Database
- DisGeNET
- Description
- Similarly, the pseudo-haplotype of rs2040639-rs861539-rs2075685 (XRCC2-XRCC3-XRCC4) and rs2040639-rs861539-rs2075685-rs1799782 (XRCCs 1-4) with specific genotype pattern (AG-CC-TG and CT-AG-CC-TG) among three and four combinational SNPs were significantly associated with oral cancer.
- Pubmed
- 18410587
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2008
Drugs