Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913302
rs121913302
RB1 ; LOC112268118
T 0.710 CausalMutation CLINVAR Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort. 27582626

2016
dbSNP: rs121913302
rs121913302
RB1 ; LOC112268118
T 0.710 CausalMutation CLINVAR Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma. 25928201

2015
dbSNP: rs121913302
rs121913302
RB1 ; LOC112268118
T 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913302
rs121913302
RB1 ; LOC112268118
T 0.710 CausalMutation CLINVAR Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations. 24791139

2014
dbSNP: rs121913302
rs121913302
RB1 ; LOC112268118
T 0.710 CausalMutation CLINVAR Screening of RB1 alterations in Brazilian patients with retinoblastoma and relatives with retinoma: phenotypic and genotypic associations. 23532519

2013
dbSNP: rs121913302
rs121913302
RB1 ; LOC112268118
0.710 GeneticVariation BEFREE A c.1363C>T (p.R455X) nonsense mutation of RB1 gene in a southern Chinese retinoblastoma pedigree. 20059380

2010
dbSNP: rs121913302
rs121913302
RB1 ; LOC112268118
T 0.710 CausalMutation CLINVAR A c.1363C>T (p.R455X) nonsense mutation of RB1 gene in a southern Chinese retinoblastoma pedigree. 20059380

2010
dbSNP: rs121913302
rs121913302
RB1 ; LOC112268118
T 0.710 CausalMutation CLINVAR The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. 8651278

1996