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: rs1555284956
rs1555284956
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		A 0.700 CausalMutation CLINVAR Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma. 26539030 2015
dbSNP: rs1555284956
rs1555284956
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		A 0.700 CausalMutation CLINVAR Spectrum of RB1 mutations identified in 403 retinoblastoma patients. 24225018 2014
dbSNP: rs1555284956
rs1555284956
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		A 0.700 CausalMutation CLINVAR Outcomes of integrating genetics in management of patients with retinoblastoma. 22084214 2011
dbSNP: rs1555284956
rs1555284956
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		A 0.700 CausalMutation CLINVAR Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications. 11317357 2001
dbSNP: rs1555284956
rs1555284956
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		C 0.700 CausalMutation CLINVAR