Variant "XRCC2:c.563G>A(p.Arg188His)"
Search result: 1 record
Variant information
Gene:
XRCC2 
Variant:
XRCC2:c.563G>A(p.Arg188His) 
Genomic location:
chr7:152346007(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_005431.1:c.563G>A(p.Arg188His)
dbSNP ID:
rs3218536  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Pancreatic Cancer (DOID_1793)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=2.32, 95% CI: (1.25-4.31) 
    Effect:
    XRCC2 Arg188His polymorphism may be one of the genetic modifiers for smoking-related pancreatic cancer
    Reference:
    PMID17986315
    Title:
    XRCC2 and XRCC3 gene polymorphism and risk of pancreatic cancer.
    Species studied:
    Human
    Abstract:
    XRCC2 and XRCC3 are key components of the homologous recombination (HR) machinery that repairs DNA double-strand breaks. We hypothesized that the altered HR repair capacity conferred by single nucleotide polymorphisms (SNPs) would modify individual susceptibility to sporadic pancreatic cancer.