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: rs1131690882
rs1131690882
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		A 0.700 CausalMutation CLINVAR De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm. 28193182 2017
dbSNP: rs1131690882
rs1131690882
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		A 0.700 CausalMutation CLINVAR Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort. 27582626 2016
dbSNP: rs1131690882
rs1131690882
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		A 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in hereditary familial retinoblastoma. 17096365 2007
dbSNP: rs1131690882
rs1131690882
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		A 0.700 CausalMutation CLINVAR Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene. 15884040 2005