Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131690860
rs1131690860
RB1 ; LOC112268118
A 0.700 CausalMutation CLINVAR Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort. 27582626

2016
dbSNP: rs1131690863
rs1131690863
RB1
T 0.700 CausalMutation CLINVAR Genetic screening in patients with Retinoblastoma in Israel. 25754945

2015
dbSNP: rs1131690863
rs1131690863
RB1
T 0.700 CausalMutation CLINVAR Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma. 25928201

2015
dbSNP: rs1131690863
rs1131690863
RB1
T 0.700 CausalMutation CLINVAR Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma. 26539030

2015
dbSNP: rs1131690863
rs1131690863
RB1
T 0.700 CausalMutation CLINVAR Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis. 26396485

2015
dbSNP: rs1131690863
rs1131690863
RB1
T 0.700 CausalMutation CLINVAR RB1 mutation spectrum in a comprehensive nationwide cohort of retinoblastoma patients. 24688104

2014
dbSNP: rs1131690863
rs1131690863
RB1
T 0.700 CausalMutation CLINVAR Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma. 7704558

1994
dbSNP: rs1131690863
rs1131690863
RB1
T 0.700 CausalMutation CLINVAR Screening of RB1 gene mutations in Chinese patients with retinoblastoma and preliminary exploration of genotype-phenotype correlations. 24791139

2014
dbSNP: rs1131690863
rs1131690863
RB1
T 0.700 CausalMutation CLINVAR Heritable retinoblastoma and accelerated aortic valve disease. 23595191

2013
dbSNP: rs1131690863
rs1131690863
RB1
T 0.700 CausalMutation CLINVAR Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort. 27582626

2016
dbSNP: rs1131690863
rs1131690863
RB1
T 0.700 CausalMutation CLINVAR Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis. 22963398

2013
dbSNP: rs1131690864
rs1131690864
RB1
G 0.700 GeneticVariation CLINVAR Screening of RB1 alterations in Brazilian patients with retinoblastoma and relatives with retinoma: phenotypic and genotypic associations. 23532519

2013
dbSNP: rs1131690864
rs1131690864
RB1
G 0.700 GeneticVariation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
dbSNP: rs1131690881
rs1131690881
RB1
T 0.700 CausalMutation CLINVAR De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm. 28193182

2017
dbSNP: rs1131690881
rs1131690881
RB1
T 0.700 CausalMutation CLINVAR Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients. 15605413

2005
dbSNP: rs1131690882
rs1131690882
RB1
A 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in hereditary familial retinoblastoma. 17096365

2007
dbSNP: rs1131690882
rs1131690882
RB1
A 0.700 CausalMutation CLINVAR Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort. 27582626

2016
dbSNP: rs1131690882
rs1131690882
RB1
A 0.700 CausalMutation CLINVAR De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm. 28193182

2017
dbSNP: rs1131690882
rs1131690882
RB1
A 0.700 CausalMutation CLINVAR Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene. 15884040

2005
dbSNP: rs1131690901
rs1131690901
RB1 ; LOC112268118
G 0.700 CausalMutation CLINVAR Spectrum of RB1 mutations identified in 403 retinoblastoma patients. 24225018

2014
dbSNP: rs1131690901
rs1131690901
RB1 ; LOC112268118
G 0.700 CausalMutation CLINVAR RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling. 29261756

2017
dbSNP: rs1131690908
rs1131690908
RB1
G 0.700 CausalMutation CLINVAR Germline mutations in the RB1 gene in patients with hereditary retinoblastoma. 8605116

1995
dbSNP: rs113488022
rs113488022
BRAF
0.010 GeneticVariation BEFREE We identified concurrent mutational inactivation of the PTEN and RB1 tumor suppressors as a mechanism for loss of BRAF/MEK dependence in melanomas harboring (V600E)BRAF mutations. 21725359

2012
dbSNP: rs11801299
rs11801299
LOC105371692
0.010 GeneticVariation BEFREE rs11801299 was significantly associated with RB risk, pathological differentiation, tumor aggressiveness and poor prognosis. 30597480

2019
dbSNP: rs121434592
rs121434592
AKT1
0.010 GeneticVariation BEFREE These results show that the mutation E17K/AKT1 was not detected in the 24 samples of retinoblastoma analyzed. 19420344

2009