Variant "ESR1:c.453-397T>C"
Search result: 1 record
Variant information
Gene:
ESR1 
Variant:
ESR1:c.453-397T>C 
Genomic location:
chr6:152163335(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001291230.1:c.453-397T>C
protein_coding NM_001122742.1:c.453-397T>C
protein_coding NM_001122741.1:c.453-397T>C
protein_coding NM_001291241.1:c.453-397T>C
protein_coding NM_001122740.1:c.453-397T>C
protein_coding NM_000125.3:c.453-397T>C
protein_coding NM_001328100.1:c.-67-397T>C
show all
dbSNP ID:
rs2234693  
GWAS trait:
heel bone mineral density 
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=0.61, 95% CI: (0.44–0.84), P=0.003 
    Effect:
    The ER-α rs2234693 and rs9340799 polymorphisms were significantly associated with the risk of late-life depression
    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.