Variant "KCNH2:n.150623137C>T"
Search result: 1 record
Variant information
Gene:
KCNH2 
Variant:
KCNH2:n.150623137C>T 
Genomic location:
chr7:150623137(hg19) 
HGVS:
SO Term RefSeq
AOC1-KCNH2:n.150623137C>T
dbSNP ID:
rs2968863  
GWAS trait:
QT interval 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered onset time(1)  
Detail：
  • Target disease:
    Atrial Fibrillation (DOID_0060224)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered onset time 
    Evidence:
    OR=2.40, P=0.001 
    Effect:
    The variant rs2968863 (7q36.1), reported in GWAS to shorten the QTc interval, was found to be associated with early-onset lone AF
    Reference:
    PMID24074973
    Title:
    Genetic modifier of the QTc interval associated with early-onset atrial fibrillation.
    Species studied:
    Human
    Abstract:
    Both shortening and prolongation of the QTc interval have been associated with atrial fibrillation (AF). We investigated whether 8 single nucleotide polymorphisms (SNPs) at loci previously shown to affect QTc interval duration were associated with lone AF.