Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587778850
rs587778850
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
T 0.700 CausalMutation CLINVAR De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm. 28193182 2017
dbSNP: rs587778850
rs587778850
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
A 0.700 CausalMutation CLINVAR Mutational analysis reveals the origin and therapy-driven evolution of recurrent glioma. 24336570 2014
dbSNP: rs587778850
rs587778850
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
A 0.700 CausalMutation CLINVAR Human Splicing Finder: an online bioinformatics tool to predict splicing signals. 19339519 2009
dbSNP: rs587778850
rs587778850
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
A 0.700 CausalMutation CLINVAR Evaluation of in silico splice tools for decision-making in molecular diagnosis. 18449911 2008
dbSNP: rs587778850
rs587778850
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in hereditary familial retinoblastoma. 17096365 2007
dbSNP: rs587778850
rs587778850
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
T 0.700 CausalMutation CLINVAR [Molecular diagnosis of retinoblastoma: molecular epidemiology and genetic counseling]. 16595082 2006
dbSNP: rs587778850
rs587778850
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
A 0.700 CausalMutation CLINVAR Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF. 14722923 2004
dbSNP: rs587778850
rs587778850
Entrez Id: 5925
Gene Symbol: RB1
RB1
CUI: C0035335
Disease:
Retinoblastoma
A 0.700 CausalMutation CLINVAR Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. 12541220 2003