RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
Disease: Retinoblastoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853293
rs137853293
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma. 26530098 2015
dbSNP: rs137853293
rs137853293
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR Mutation spectrum of RB1 gene in unilateral retinoblastoma cases from Tunisia and correlations with clinical features. 25602518 2015
dbSNP: rs137853293
rs137853293
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR Spectrum of RB1 mutations identified in 403 retinoblastoma patients. 24225018 2014
dbSNP: rs137853293
rs137853293
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR Phenotypic variability of retinocytomas: preregression and postregression growth patterns. 22328814 2012
dbSNP: rs137853293
rs137853293
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. 2594029 1989