Variant "IRX3:c.*3961G>A"
Search result: 1 record
Variant information
Gene:
IRX3 
Variant:
IRX3:c.*3961G>A 
Genomic location:
chr16:54313637(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_024336.2:c.*3961G>A
LOC100996338-IRX3:n.54313637C>T
dbSNP ID:
rs8053360  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Obesity (DOID_9970)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.146 
    Effect:
    The rs8053360 CC and rs1126960 GG genotypes were associated with increased birth weight and BMI, especially in females.
    Reference:
    PMID28316138
    Title:
    IRX3 is a genetic modifier for birth weight, adolescent obesity and transaminase metabolism.
    Species studied:
    Human
    Abstract:
    IRX3 expression has been functionally associated in obesity-associated long-distance susceptibility loci, but the effect of the IRX3 genetic variants on human obesity and obesity-related metabolism remains uncertain.