Variant "COL11A1:c.4004C>T(p.Pro1335Leu)"
Search result: 1 record
Variant information
Gene:
COL11A1 
Variant:
COL11A1:c.4004C>T(p.Pro1335Leu) 
Genomic location:
chr1:103379918(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_080629.2:c.4004C>T(p.Pro1335Leu)
protein_coding NM_001854.3:c.3968C>T(p.Pro1323Leu)
protein_coding NM_001190709.1:c.3851C>T(p.Pro1284Leu)
protein_coding NM_080630.3:c.3620C>T(p.Pro1207Leu)
pseudogene NR_134980.1:n.4302C>T
dbSNP ID:
rs3753841  
GWAS trait:
primary angle closure glaucoma,glaucoma 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered susceptibility(1)  
Detail：
  • Target disease:
    Angle-Closure Glaucoma (DOID_13550)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered susceptibility 
    Evidence:
    gg vs aa: odds ratio 1.26, 95% confidence interval 1.13-1.41; gg vs ga + aa: odds ratio 1.24, 95% confidence interval 1.12-1.38 
    Effect:
    COL11A1 variant rs3753841 may confer higher susceptibility to PACG
    Reference:
    PMID25785070
    Title:
    A common genetic variant as an effect modifier for primary angle closure glaucoma.
    Species studied:
    Human
    Abstract:
    Epidemiological studies provide evidence of a genetic basis for primary angle closure glaucoma (PACG), and genome-wide association studies (GWAS) have identified various candidate genes as susceptibility loci. However, different results produced by previous studies make the role of a common genetic variant in the COL11A1 gene (rs3753841) remains elusive. Thus, we carried out a meta-analysis, attempting to determine the association of rs3753841 with PACG.