Variant "REN:c.493-131A>C"
Search result: 1 record
Variant information
Gene:
REN 
Variant:
REN:c.493-131A>C 
Genomic location:
chr1:204128854(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000537.3:c.493-131A>C
dbSNP ID:
rs1464816  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered risk of CKD(1)  
Detail：
  • Target disease:
    Chronic Kidney Disease (DOID_784)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered risk of CKD 
    Evidence:
    OR=4.80; 95 % CI:1.30-17.82; P=0.019 
    Effect:
    The rs1464816 polymorphism in REN is associated with CKD progression in ADPKD.
    Reference:
    PMID26753721
    Title:
    Renin gene rs1464816 polymorphism contributes to chronic kidney disease progression in ADPKD.
    Species studied:
    Human
    Abstract:
    Autosomal dominant polycystic kidney disease (ADPKD) is a monogenic disorder and is a common genetic cause of chronic renal failure in children and adults. The enzyme renin plays a key role in the RAAS cascade and an important role in the development of hypertension and progression of renal disease in ADPKD. The present study is aimed to investigate the potential modifier effect of REN gene polymorphisms on the progression of chronic kidney disease (CKD) in ADPKD.