Variant "TYK2:c.157G>A(p.Ala53Thr)"
Search result: 1 record
Variant information
Gene:
TYK2 
Variant:
TYK2:c.157G>A(p.Ala53Thr) 
Genomic location:
chr19:10488926(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_003331.4:c.157G>A(p.Ala53Thr)
protein_coding 4PO6:A_53-A_89:NM_003331.4:c.157G>A
dbSNP ID:
rs55762744  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Multiple Sclerosis (DOID_2377)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.016 
    Effect:
    rs55762744 is a rare variant of modest effect on MS risk affecting a subset of patients
    Reference:
    PMID22744673
    Title:
    Exome sequencing identifies a novel multiple sclerosis susceptibility variant in the TYK2 gene.
    Species studied:
    Human
    Abstract:
    To identify rare variants contributing to multiple sclerosis (MS) susceptibility in a family we have previously reported with up to 15 individuals affected across 4 generations.