Variant "ENPP1:c.313+9G>T"
Search result: 1 record
Variant information
Gene:
ENPP1 
Variant:
ENPP1:c.313+9G>T 
Genomic location:
chr6:132168997(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_006208.2:c.313+9G>T
dbSNP ID:
rs7773477  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Pseudoxanthoma Elasticum (DOID_2738)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.0024 
    Effect:
    The ENPP1 gene (c.313+9G>T, rs7773477) remained significantly associated with PXE with significantly higher MAF values in the patient cohort (MAF: 0.04 vs. 0.00; P=0.0024) and a high association with PXE susceptibility (OR 27.96).
    Reference:
    PMID25025693
    Title:
    Variants in genes encoding pyrophosphate metabolizing enzymes are associated with Pseudoxanthoma elasticum.
    Species studied:
    Human
    Abstract:
    Pseudoxanthoma elasticum (PXE) is a rare hereditary disorder characterized by progressive calcification and fragmentation of elastic fibers. Because of the great clinical variability between PXE patients the involvement of modifier genes was recently suggested. Therefore, we investigated the association of single nucleotide variants (SNVs) in selected candidate genes known to regulate cellular pyrophosphate metabolism.