Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs1380576
rs1380576
MDM4
0.010 GeneticVariation BEFREE As for rs1380576, a significantly lower risk of developing RB was observed in patients with G allele (CG + GG) compared with wild-type CC genotype (OR = 0.59, 95%CI 0.36-3.95). 30597480

2019
dbSNP: rs1801270
rs1801270
CDKN1A
0.030 GeneticVariation BEFREE Association between MDM2 rs2279744, MDM2 rs937283, and p21 rs1801270 polymorphisms and retinoblastoma susceptibility. 30544467

2018
dbSNP: rs937283
rs937283
MDM2
0.030 GeneticVariation BEFREE Association between MDM2 rs2279744, MDM2 rs937283, and p21 rs1801270 polymorphisms and retinoblastoma susceptibility. 30544467

2018
dbSNP: rs937283
rs937283
MDM2
0.030 GeneticVariation BEFREE Moreover, the meta-analysis according to cancer types revealed that rs937283 was associated with retinoblastoma risk, but not squamous cell carcinoma risk. 29777315

2018
dbSNP: rs1131690901
rs1131690901
RB1 ; LOC112268118
G 0.700 CausalMutation CLINVAR RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling. 29261756

2017
dbSNP: rs137853294
rs137853294
RB1
T 0.800 CausalMutation CLINVAR Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling. 28575107

2017
dbSNP: rs121913300
rs121913300
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling. 28575107

2017
dbSNP: rs1042522
rs1042522
TP53
0.020 GeneticVariation BEFREE The rs9568036 polymorphism in the <i>RB1</i> gene and the allelic variants can be associated with type of response to medical therapy and associated with male sex, while the allelic variant rs1042522 polymorphism in the <i>TP53</i> gene is associated with the unilateral presentation of the disease in a group of Mexican children with RB. 28210099

2017
dbSNP: rs9568036
rs9568036
RB1 ; LPAR6
0.010 GeneticVariation BEFREE The rs9568036 polymorphism in the <i>RB1</i> gene and the allelic variants can be associated with type of response to medical therapy and associated with male sex, while the allelic variant rs1042522 polymorphism in the <i>TP53</i> gene is associated with the unilateral presentation of the disease in a group of Mexican children with RB. 28210099

2017
dbSNP: rs1131690851
rs1131690851
RB1 ; LOC112268118
A 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 De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm. 28193182

2017
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: rs1566235470
rs1566235470
RB1
T 0.700 CausalMutation CLINVAR De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm. 28193182

2017
dbSNP: rs587778850
rs587778850
RB1
T 0.700 CausalMutation CLINVAR De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm. 28193182

2017
dbSNP: rs768305224
rs768305224
RB1
A 0.700 CausalMutation CLINVAR De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm. 28193182

2017
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
0.010 GeneticVariation BEFREE The C allele together with a germ-line RB1 gene mutation may speed retinoblastoma onset which suggests that mir-34b/c rs4938723T > C may represent a candidate biomarker for hereditary RB. 28106538

2017
dbSNP: rs1555295354
rs1555295354
RB1
A 0.700 GeneticVariation CLINVAR Generation of induced pluripotent stem cells (iPSCs) from a retinoblastoma patient carrying a c.2663G>A mutation in RB1 gene. 27879208

2016
dbSNP: rs137853292
rs137853292
RB1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs200844292
rs200844292
RB1 ; LOC112268118
0.700 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs3092902
rs3092902
RB1
0.700 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs767011440
rs767011440
RB1 ; LOC112268118
0.700 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs121913302
rs121913302
RB1 ; LOC112268118
T 0.710 CausalMutation CLINVAR Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort. 27582626

2016
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 Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort. 27582626

2016