Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913303
rs121913303
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: rs121913303
rs121913303
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR Genetic screening in patients with Retinoblastoma in Israel. 25754945

2015
dbSNP: rs121913303
rs121913303
RB1 ; LOC112268118
T 0.700 GeneticVariation CLINVAR Genetic screening in patients with Retinoblastoma in Israel. 25754945

2015
dbSNP: rs121913303
rs121913303
RB1 ; LOC112268118
T 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913303
rs121913303
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: rs121913303
rs121913303
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma. 22219649

2011
dbSNP: rs121913303
rs121913303
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma. 7704558

1994