Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776787
rs587776787
RB1
T 0.700 CausalMutation CLINVAR Phenotypic variability of retinocytomas: preregression and postregression growth patterns. 22328814

2012
dbSNP: rs587776787
rs587776787
RB1
T 0.700 CausalMutation CLINVAR Germline mutations in retinoma patients: relevance to low-penetrance and low-expressivity molecular basis. 19390654

2009
dbSNP: rs587776787
rs587776787
RB1
T 0.700 CausalMutation CLINVAR Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression. 18181215

2008
dbSNP: rs587776787
rs587776787
RB1
T 0.700 CausalMutation CLINVAR Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. 12541220

2003
dbSNP: rs587776787
rs587776787
RB1
T 0.700 CausalMutation CLINVAR A splicing mutation in RB1 in low penetrance retinoblastoma. 9341870

1997
dbSNP: rs587776787
rs587776787
RB1
A 0.700 CausalMutation CLINVAR