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: rs587776789
rs587776789
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1. 26925970 2016
dbSNP: rs587776789
rs587776789
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in hereditary familial retinoblastoma. 17096365 2007
dbSNP: rs587776789
rs587776789
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene. 12016586 2002