Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123331
rs398123331
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma. 25928201

2015
dbSNP: rs398123331
rs398123331
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma. 26530098

2015
dbSNP: rs398123331
rs398123331
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients. 24688104

2014
dbSNP: rs398123331
rs398123331
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma. 7795591

1995