RB1, RB transcriptional corepressor 1, 5925

N. diseases: 339; N. variants: 239
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: rs1131690901
rs1131690901
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma 		G 0.700 CausalMutation CLINVAR RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling. 29261756 2017
dbSNP: rs121913300
rs121913300
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Genetic screening in Iranian patients with retinoblastoma. 27983729 2017
dbSNP: rs121913300
rs121913300
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling. 28575107 2017
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667 2017
dbSNP: rs1566235470
rs1566235470
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm. 28193182 2017
dbSNP: rs200844292
rs200844292
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma 		0.700 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs3092891
rs3092891
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling. 28575107 2017
dbSNP: rs3092902
rs3092902
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		0.700 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs587776789
rs587776789
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling. 28575107 2017
dbSNP: rs587778850
rs587778850
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm. 28193182 2017
dbSNP: rs767011440
rs767011440
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma 		0.700 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs768305224
rs768305224
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: rs1131690860
rs1131690860
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
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: rs1131690863
rs1131690863
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		T 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 Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort. 27582626 2016
dbSNP: rs121913301
rs121913301
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort. 27582626 2016
dbSNP: rs121913303
rs121913303
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort. 27582626 2016
dbSNP: rs121913305
rs121913305
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Molecular diagnosis in patients with retinoblastoma: Report of a series of cases. 27021801 2016
dbSNP: rs137853294
rs137853294
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		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: rs1555286568
rs1555286568
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma 		G 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: rs1555295354
rs1555295354
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma 		A 0.700 GeneticVariation CLINVAR Generation of induced pluripotent stem cells (iPSCs) from a retinoblastoma patient carrying a c.2663G>A mutation in RB1 gene. 27879208 2016
dbSNP: rs2854355
rs2854355
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0005612
Disease:
Birth Weight 		G 0.700 GeneticVariation GWASCAT Genome-wide associations for birth weight and correlations with adult disease. 27680694 2016
dbSNP: rs3092891
rs3092891
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma 		T 0.700 CausalMutation CLINVAR Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. 26787237 2016
dbSNP: rs3092891
rs3092891
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. 26787237 2016