Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1566234123
rs1566234123
RB1
TA 0.700 CausalMutation CLINVAR Genetic screening in patients with Retinoblastoma in Israel. 25754945

2015

dbSNP: rs1566234123
rs1566234123
RB1
TA 0.700 CausalMutation CLINVAR Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations. 24791139

2014

dbSNP: rs1566234123
rs1566234123
RB1
TA 0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011

dbSNP: rs1566234123
rs1566234123
RB1
TA 0.700 CausalMutation CLINVAR Outcomes of integrating genetics in management of patients with retinoblastoma. 22084214

2011

dbSNP: rs1566234123
rs1566234123
RB1
TA 0.700 CausalMutation CLINVAR Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients. 15605413

2005