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 )
XRCC2 p.Arg188His (p.R188H) ( ENST00000359321.2, ENST00000698506.1 )
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 )
XRCC2 p.Arg188His (p.R188H) ( ENST00000359321.2, ENST00000698506.1 )
Associated Disease
differentiated thyroid gland carcinoma
Source Database
DisGeNET
Description
It is recommended that Rad52 2259C>T, XRCC2 R188H and XRCC3 T241M polymorphisms should be simultaneously considered as contributing to a polygenic risk of differentiated thyroid carcinoma.
Pubmed
24377596
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00081432561624091
Year of publication
2015
Drugs