Variant "TIMP2:c.-719G>C"
Search result: 1 record
Variant information
Gene:
TIMP2 
Variant:
TIMP2:c.-719G>C 
Genomic location:
chr17:76921889(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_003255.4:c.-719G>C
TIMP2-LGALS3BP:n.76921889C>G
dbSNP ID:
rs8179090  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Target disease:
    Scoliosis (DOID_0060249)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P<0.05 
    Effect:
    The TIMP-2 gene is a disease-modifier gene of thoracic AIS
    Reference:
    PMID21228746
    Title:
    A promoter polymorphism of tissue inhibitor of metalloproteinase-2 gene is associated with severity of thoracic adolescent idiopathic scoliosis.
    Species studied:
    Human
    Abstract:
    A genetic association study of the tissue inhibitor of metalloproteinase-2 (TIMP-2) gene with adolescent idiopathic scoliosis (AIS) in a Chinese population.