Annotation Detail
Information
- Associated Genes
- AGTR1
- Associated Variants
-
AGTR1 MUTATION
AGTR1 MUTATION
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg107Leu (p.R107L) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg107His (p.R107H) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg107Leu (p.R107L) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg107His (p.R107H) ( ENST00000262887.10, ENST00000543982.5 ) - Associated Disease
- endometriosis
- Source Database
- DisGeNET
- Description
- XRCC1 399 Arg-related genotype and allele, but not XRCC1 His107Arg, XRCC1 Trp194Arg, KCNQ2, AT1R, and hOGG1 polymorphisms, are associated with higher susceptibility of endometriosis.
- Pubmed
- 22084859
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2015
Drugs