Gene: RB1 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913302
rs121913302
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan. 28803391

2018
dbSNP: rs398123331
rs398123331
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan. 28803391

2018
dbSNP: rs121913300
rs121913300
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR Genetic screening in Iranian patients with retinoblastoma. 27983729

2017
dbSNP: rs137853294
rs137853294
RB1
T 0.700 CausalMutation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667

2017
dbSNP: rs3092891
rs3092891
RB1 ; LOC112268118
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: rs587776789
rs587776789
RB1
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: rs121913305
rs121913305
RB1
T 0.700 CausalMutation CLINVAR Molecular diagnosis in patients with retinoblastoma: Report of a series of cases. 27021801

2016
dbSNP: rs137853294
rs137853294
RB1
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: rs3092891
rs3092891
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. 26787237

2016
dbSNP: rs3092891
rs3092891
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort. 27582626

2016
dbSNP: rs1131690843
rs1131690843
RB1
A 0.700 GeneticVariation CLINVAR Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma. 25928201

2015
dbSNP: rs1131690858
rs1131690858
RB1
G 0.700 CausalMutation CLINVAR Genetic screening in patients with Retinoblastoma in Israel. 25754945

2015
dbSNP: rs1131690909
rs1131690909
RB1 ; LOC112268118
A 0.700 GeneticVariation CLINVAR A stepwise strategy for rapid and cost-effective RB1 screening in Indian retinoblastoma patients. 26084579

2015
dbSNP: rs121913300
rs121913300
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs121913301
rs121913301
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis. 26396485

2015
dbSNP: rs121913301
rs121913301
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR Genetic screening in patients with Retinoblastoma in Israel. 25754945

2015
dbSNP: rs121913301
rs121913301
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma. 25928201

2015
dbSNP: rs121913302
rs121913302
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism. 25712084

2015
dbSNP: rs137853293
rs137853293
RB1
T 0.700 CausalMutation CLINVAR Genetic screening in patients with Retinoblastoma in Israel. 25754945

2015
dbSNP: rs137853293
rs137853293
RB1
T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs3092891
rs3092891
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR Germline Mutations in Predisposition Genes in Pediatric Cancer. 26580448

2015
dbSNP: rs3092891
rs3092891
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR RB loss in resistant EGFR mutant lung adenocarcinomas that transform to small-cell lung cancer. 25758528

2015
dbSNP: rs587778842
rs587778842
RB1
T 0.700 CausalMutation CLINVAR A stepwise strategy for rapid and cost-effective RB1 screening in Indian retinoblastoma patients. 26084579

2015
dbSNP: rs587778842
rs587778842
RB1
T 0.700 CausalMutation CLINVAR Novel mutations in the RB1 gene from Chinese families with a history of retinoblastoma. 25424699

2015
dbSNP: rs587778842
rs587778842
RB1
T 0.700 CausalMutation CLINVAR Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma. 25928201

2015