RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913302
rs121913302
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan. 28803391 2018
dbSNP: rs121913302
rs121913302
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism. 25712084 2015
dbSNP: rs121913302
rs121913302
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations. 24791139 2014
dbSNP: rs121913302
rs121913302
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Rapid detection of RB1 recurrent mutations in retinoblastoma by ARMS-PCR. 23981928 2013
dbSNP: rs121913302
rs121913302
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma. 22219649 2011
dbSNP: rs121913302
rs121913302
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Detection of mosaic RB1 mutations in families with retinoblastoma. 19280657 2009
dbSNP: rs121913302
rs121913302
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in hereditary familial retinoblastoma. 17096365 2007
dbSNP: rs121913302
rs121913302
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications. 11317357 2001
dbSNP: rs121913302
rs121913302
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. 8651278 1996