Variant "ESR2:c.984G>A(p.Val328Val)"
Search result: 1 record
Variant information
Gene:
ESR2 
Variant:
ESR2:c.984G>A(p.Val328Val) 
Genomic location:
chr14:64724051(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001437.2:c.984G>A(p.Val328Val)
protein_coding NM_001291712.1:c.984G>A(p.Val328Val)
protein_coding NM_001214902.1:c.984G>A(p.Val328Val)
protein_coding NM_001040275.1:c.984G>A(p.Val328Val)
protein_coding NM_001291723.1:c.984G>A(p.Val328Val)
protein_coding NM_001271876.1:c.984G>A(p.Val328Val)
pseudogene NR_073496.1:n.1695+3116G>A
protein_coding NM_001271877.1:c.952+3116G>A
pseudogene NR_073497.1:n.952G>A
show all
dbSNP ID:
rs1256049  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Depressivity (HP:0000716)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=1.44, 95% CI: (1.01–2.05), P=0.05 
    Effect:
    The ER-β rs4986938 polymorphism showed a weak association with depression risk.
    Reference:
    PMID21804148
    Title:
    Oestrogen receptor polymorphisms and late-life depression.
    Species studied:
    Human
    Abstract:
    Evidence suggests a role for oestrogen in depression but the involvement of oestrogen receptor polymorphisms remains unknown.