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: rs587778842
rs587778842
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families. 27155049 2016
dbSNP: rs587778842
rs587778842
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR Genetic screening in patients with Retinoblastoma in Israel. 25754945 2015
dbSNP: rs587778842
rs587778842
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: rs587778842
rs587778842
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis. 22963398 2013
dbSNP: rs587778842
rs587778842
Entrez Id: 5925
Gene Symbol: RB1
RB1
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