Variant "SMAD3:c.*9427G>A"
Search result: 1 record
Variant information
Gene:
SMAD3 
Variant:
SMAD3:c.*9427G>A 
Genomic location:
chr15:67492301(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_005902.3:c.*9427G>A
protein_coding NM_024666.4:c.*2858C>T
protein_coding NM_001145102.1:c.*9427G>A
protein_coding NM_001145103.1:c.*9427G>A
protein_coding NM_001145104.1:c.*9427G>A
protein_coding NM_001271886.1:c.*2858C>T
protein_coding NM_001271885.1:c.*2858C>T
SMAD3-AAGAB:n.67492301G>A
show all
dbSNP ID:
rs7166081  
GWAS trait:
smoking behavior,BMI-adjusted waist circumference,waist circumference,body mass index,eosinophil count 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Breast Cancer (DOID_1612)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=1.25, 95% CI: 1.07 to 1.45, P(trend) = 0.004 
    Effect:
    The minor alleles of two SNPs (rs7166081 and rs3825977) were each associated with increased breast cancer risk for BRCA2 mutation carriers
    Reference:
    PMID21114847
    Title:
    Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers.
    Species studied:
    Human
    Abstract:
    Current attempts to identify genetic modifiers of BRCA1 and BRCA2 associated risk have focused on a candidate gene approach, based on knowledge of gene functions, or the development of large genome-wide association studies. In this study, we evaluated 24 SNPs tagged to 14 candidate genes derived through a novel approach that analysed gene expression differences to prioritise candidate modifier genes for association studies.