Variant "FN1:c.1394-310T>C"
Search result: 1 record
Variant information
Gene:
FN1 
Variant:
FN1:c.1394-310T>C 
Genomic location:
chr2:216287276(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_212482.2:c.1394-310T>C
protein_coding NM_002026.3:c.1394-310T>C
protein_coding NM_212474.2:c.1394-310T>C
protein_coding NM_212476.2:c.1394-310T>C
protein_coding NM_212478.2:c.1394-310T>C
protein_coding NM_001306129.1:c.1394-310T>C
protein_coding NM_001306130.1:c.1394-310T>C
protein_coding NM_001306131.1:c.1394-310T>C
protein_coding NM_001306132.1:c.1394-310T>C
protein_coding NM_054034.2:c.1394-310T>C
show all
dbSNP ID:
rs1250249  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered onset time(1)  
Detail：
  • Target disease:
    Multiple Sclerosis (DOID_2377)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered onset time 
    Evidence:
    P=0.0002 
    Effect:
    SNP rs1250249 of the FN1 had a dose-dependent effect on age at disease onset
    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).