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: rs121913300
rs121913300
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling. 28575107 2017
dbSNP: rs121913300
rs121913300
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR Genetic screening in patients with Retinoblastoma in Israel. 25754945 2015
dbSNP: rs121913300
rs121913300
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 GeneticVariation CLINVAR Genetic screening in patients with Retinoblastoma in Israel. 25754945 2015
dbSNP: rs121913300
rs121913300
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs121913300
rs121913300
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR Spectrum of RB1 mutations identified in 403 retinoblastoma patients. 24225018 2014
dbSNP: rs121913300
rs121913300
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients. 15605413 2005
dbSNP: rs121913300
rs121913300
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. 12541220 2003
dbSNP: rs121913300
rs121913300
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma. 7704558 1994