Variant "PRKDC:c.6462+375G>T"
Search result: 1 record
Variant information
Gene:
PRKDC 
Variant:
PRKDC:c.6462+375G>T 
Genomic location:
chr8:48770702(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_006904.6:c.6462+375G>T
protein_coding NM_001081640.1:c.6462+375G>T
dbSNP ID:
rs7003908  
GWAS trait:
insomnia 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered risk of HCC(1)  
Detail：
  • Target disease:
    Hepatocellular Carcinoma (DOID_684)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered risk of HCC 
    Evidence:
    G allele: OR=3.45, 95% CI: 2.40-4.94, T allele: OR=5.04, 95% CI: 3.28-7.76 
    Effect:
    These individuals with the genotypes of XRCC7 rs#7003908 G alleles (namely XRCC7-TG or -GG), compared the homozygote of XRCC7 rs#7003908 T alleles (XRCC7-TT), faced increasing risk of HCC (OR, 3.45 and 5.04; 95% confidence intervals [CIs], 2.40-4.94 and 3.28-7.76, respectively)
    Reference:
    PMID21883743
    Title:
    DNA repair gene XRCC7 polymorphisms (rs#7003908 and rs#10109984) and hepatocellular carcinoma related to AFB1 exposure among Guangxi population, China.
    Species studied:
    Human
    Abstract:
    The X-ray repair cross-complementing group 7 (XRCC7) plays an important role in the repair of DNA double-strand breaks by nonhomologous end-joining repair (NEJR) pathway. However, the role of XRCC7 polymorphisms (rs#7003908 and rs#10109984) possibly influencing NEJR capacity in hepatocellular carcinoma (HCC) induced by aflatoxin B1 (AFB1) has not been well elaborated.