Variant "SPP1:c.256-425A>G"
Search result: 1 record
Variant information
Gene:
SPP1 
Variant:
SPP1:c.256-425A>G 
Genomic location:
chr4:88902202(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001251830.1:c.256-425A>G
protein_coding NM_000582.2:c.175-425A>G
protein_coding NM_001040058.1:c.217-425A>G
protein_coding NM_001040060.1:c.136-425A>G
protein_coding NM_001251829.1:c.94-425A>G
dbSNP ID:
rs6532040  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Target disease:
    Multiple Sclerosis (DOID_2377)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P=0.009884 
    Effect:
    SNPs rs6721763 of the ITGA4 and rs6532040 of the SPP1 were found to significantly influence disease severity
    Reference:
    PMID28473999
    Title:
    Gene variants of adhesion molecules act as modifiers of disease severity in MS.
    Species studied:
    Human
    Abstract:
    To assess the potential effect of variants in genes encoding molecules that are implicated in leukocyte trafficking into the CNS on the clinical phenotype of multiple sclerosis (MS).