Variant "EPHA4:c.824-29729G>C"
Search result: 1 record
Variant information
Gene:
EPHA4 
Variant:
EPHA4:c.824-29729G>C 
Genomic location:
chr2:222395621(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001304536.1:c.824-29729G>C
protein_coding NM_001304537.1:c.671-29729G>C
protein_coding NM_004438.4:c.824-29729G>C
dbSNP ID:
rs75843691  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Type 2 Diabetes Mellitus (DOID_9352)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=8.3×10, below the bonferroni-corrected critical p value 
    Effect:
    EPHA4 appears to be a sex-specific hypertension risk gene in type 2 diabetic patients.
    Reference:
    PMID30817459
    Title:
    EPHA4 regulates vascular smooth muscle cell contractility and is a sex-specific hypertension risk gene in individuals with type 2 diabetes.
    Species studied:
    Human
    Abstract:
    We investigated the association of genetic variants of EPHA4, a receptor tyrosine kinase, with hypertension, and its role in vascular smooth muscle cell (VSMC) contractility.