Variant "ERCC6:c.1821+7C>T"
Search result: 1 record
Variant information
Gene:
ERCC6 
Variant:
ERCC6:c.1821+7C>T 
Genomic location:
chr10:50701156(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000124.3:c.1821+7C>T
dbSNP ID:
rs4253132  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Association between smoking and HNC(1)  
Detail：
  • Target disease:
    Head And Neck Carcinoma (DOID_1542)
    Effect type:
    Expressivity 
    Modifier effect:
    Association between smoking and HNC 
    Evidence:
    CC+CT vs. TT; OR=0.62; 95% CI: 0.45-0.86 
    Effect:
    rs4253132 on ERCC6 was associated with decreased HNC odds
    Reference:
    PMID23720401
    Title:
    Single-nucleotide polymorphisms in nucleotide excision repair genes, cigarette smoking, and the risk of head and neck cancer.
    Species studied:
    Human
    Abstract:
    Cigarette smoking is associated with increased head and neck cancer (HNC) risk. Tobacco-related carcinogens are known to cause bulky DNA adducts. Nucleotide excision repair (NER) genes encode enzymes that remove adducts and may be independently associated with HNC, as well as modifiers of the association between smoking and HNC.