Variant "PTPN22:c.-1123C>G"
Search result: 1 record
Variant information
Gene:
PTPN22 
Variant:
PTPN22:c.-1123C>G 
Genomic location:
chr1:114415368(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_015967.6:c.-1123C>G
protein_coding NM_001193431.2:c.-1123C>G
protein_coding NM_001308297.1:c.-1123C>G
protein_coding NM_012411.5:c.-1123C>G
protein_coding NM_001010922.2:c.*8377C>G
pseudogene NR_125965.1:n.415-25122G>C
pseudogene NR_037864.1:n.246+14730G>C
show all
dbSNP ID:
rs2488457  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Autoimmune Hypersensitivity Disease (DOID_417)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.0258 
    Effect:
    The -1123G > C SNP in the PTPN22 gene promoter and HLA DRB1*0405-DQB1*0401 might influence the concurrence of systemic and organ-specific ADs in patients with type 1 diabetes.
    Reference:
    PMID29762907
    Title:
    Genetic differences between type 1 diabetes with and without other autoimmune diseases.
    Species studied:
    Human
    Abstract:
    Clusters of autoimmune diseases (ADs) are present in some people with type 1 diabetes. This clustering suggests the existence of common genetic backgrounds for abnormal autoimmunity in these individuals. However, the genetic differences between type 1 diabetes patients with and without other ADs are not well known.