Variant "HSPD1:rs41265953"
Search result: 1 record
Variant information
Gene:
HSPD1 
Variant:
HSPD1:rs41265953 
dbSNP ID:
rs41265953  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Penetrance(1)  
Modifier effect:
Altered incidence(1)  
Detail：
  • Target disease:
    Hereditary spastic paraplegia (DOID_2476)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    Pedigree analysis 
    Effect:
    PLN may act as a genetic modifier of hereditary spastic paraparesis
    Reference:
    PMID18458233
    Title:
    HSP60 is a rare cause of hereditary spastic paraparesis, but may act as a genetic modifier
    Species studied:
    Human
    Abstract:
    No data