Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs3092891
rs3092891
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR Genetic screening in patients with Retinoblastoma in Israel. 25754945

2015
dbSNP: rs3092891
rs3092891
RB1 ; LOC112268118
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: rs3092891
rs3092891
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients. 24688104

2014
dbSNP: rs3092891
rs3092891
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis. 22963398

2013
dbSNP: rs3092891
rs3092891
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling. 2594029

1989