Variant "HSD17B3:c.865G>A(p.Gly289Ser)"
Search result: 1 record
Variant information
Gene:
HSD17B3 
Variant:
HSD17B3:c.865G>A(p.Gly289Ser) 
Genomic location:
chr9:98997810(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000197.1:c.865G>A(p.Gly289Ser)
dbSNP ID:
rs2066479  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Hypospadias (DOID_10892)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=3.06; 95% CI: 1.38-6.76 
    Effect:
    These results suggest that the HSD17B3 G289S polymorphism may be a potential risk modifier for hypospadias.
    Reference:
    PMID20059664
    Title:
    Genetic polymorphisms of 17 β-hydroxysteroid dehydrogenase 3 and the risk of hypospadias.
    Species studied:
    Human
    Abstract:
    Hypospadias is a common congenital anomaly caused by incomplete fusion of urethral folds. Development of the urethra and external genital system in the male fetus is an androgen-dependent process. In this regard, enzymes 17 β-hydroxysteroid dehydrogenase type 3 (17 β HSD3, encoded by HSD17B3) and steroid 5 α-reductase type 2 (encoded by SRD5A2) play crucial roles.