Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913302
rs121913302
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma
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
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma
T 0.710 CausalMutation CLINVAR Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma. 25928201 2015
dbSNP: rs121913302
rs121913302
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma
T 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs121913302
rs121913302
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma
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
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma
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
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma
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
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma
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
Entrez Id: 5925;112268118
Gene Symbol: RB1;LOC112268118
RB1;LOC112268118
CUI: C0035335
Disease:
Retinoblastoma
T 0.710 CausalMutation CLINVAR The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. 8651278 1996