Variant "MBL2:c.-619C>G"
Search results: 2 records
Variant information
Gene:
MBL2 
Variant:
MBL2:c.-619C>G 
Genomic location:
chr10:54532014(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000242.2:c.-619C>G
MBL2-PCDH15:n.54532014G>C
dbSNP ID:
rs11003125  
GWAS trait:
no data 
Modifier statisitcs
Record:
2 
Disorder:
2 
Reference:
1 
Effect type:
Expressivity(2)  
Modifier effect:
Risk factor(2)  
Details：
  • Target disease:
    Abnormal Lung Morphology (HP:0002088)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.022, OR=2.87, 95% CI: 1.14-7.27 
    Effect:
    The MBL2 allele rs11003125 (MBL2-550; P=0.022, Odds Ratio (OR) 2.87, 95% CI 1.14-7.27) was significantly associated with CF patients as risk factor。
    Reference:
    PMID29703608
    Title:
    Influence of SNPs in Genes that Modulate Lung Disease Severity in a Group of Mexican Patients with Cystic Fibrosis.
    Species studied:
    Human
    Abstract:
    The variation in cystic fibrosis (CF) lung disease not always is explained by the CFTR genotype, so it has become apparent that modifier genes must play a considerable role in the phenotypic heterogeneity of CF, so we investigated the association of allelic variants in modifier genes that modulate the severity of lung function in a group of Mexican patients diagnosed with CF.
  • Target disease:
    Cystic fibrosis (DOID_1485)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.022, OR=2.87, 95% CI: 1.14-7.27 
    Effect:
    The MBL2 and ADRB2 genes exerts an important genetic influence on the lung disease
    Reference:
    PMID29703608
    Title:
    Influence of SNPs in Genes that Modulate Lung Disease Severity in a Group of Mexican Patients with Cystic Fibrosis.
    Species studied:
    Human
    Abstract:
    The variation in cystic fibrosis (CF) lung disease not always is explained by the CFTR genotype, so it has become apparent that modifier genes must play a considerable role in the phenotypic heterogeneity of CF, so we investigated the association of allelic variants in modifier genes that modulate the severity of lung function in a group of Mexican patients diagnosed with CF.