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: rs398123331
rs398123331
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma. 25928201 2015
dbSNP: rs398123331
rs398123331
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma. 26530098 2015
dbSNP: rs398123331
rs398123331
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients. 24688104 2014
dbSNP: rs398123331
rs398123331
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma. 7795591 1995