Variant "TFR2:rs41303501"
Search result: 1 record
Variant information
Gene:
TFR2 
Variant:
TFR2:rs41303501 
dbSNP ID:
rs41303501  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Penetrance(1)  
Modifier effect:
Altered incidence(1)  
Detail：
  • Target disease:
    Hemochromatosis (DOID_2352)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    Gene activity study 
    Effect:
    a modifier for penetrance of the hemochromatosis phenotype
    Reference:
    PMID12150153
    Title:
    Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis.
    Species studied:
    Human
    Abstract:
    No data