Variant "F8:rs1050705"
Search result: 1 record
Variant information
Gene:
F8 
Variant:
F8:rs1050705 
dbSNP ID:
rs1050705  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Target disease:
    Hemophilia A (Orphanet_98878)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Gene activity study 
    Effect:
    miR‐26a‐5p and miR‐26b‐5p, predicted to bind with favourable energetic scores at the polymorphic region c.8728 when allele G is present may act as phenotype modifiers in HA patients.
    Reference:
    PMID27228178
    Title:
    A germline variant affects putative miRNA-binding sites at the F8 3'UTR and acts as a potential haemophilia A phenotype modifier in Southern Brazilian patients.
    Species studied:
    Human
    Abstract:
    No data