Variant "RHO:c.-26G>A"
Search result: 1 record
Variant information
Gene:
RHO 
Variant:
RHO:c.-26G>A 
dbSNP ID:
rs7984  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Retinitis Pigmentosa (DOID_10584)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    -26G> A, was found to increase the risk of RP
    Reference:
    PMID16185528
    Title:
    Digenic association of RHO and RP1 genes with retinitis pigmentosa among Chinese population in Hong Kong.
    Species studied:
    Human
    Abstract:
    To identify the mutation patterns of RHO and RP1 genes in the Chinese patients with retinitis pigmentosa (RP) and to explore their potential interactions in the pathogenesis of RP.