Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1039659576
rs1039659576
MTR
0.010 GeneticVariation BEFREE A case-control study of 72 retinoblastoma cases and 98 cancer-free children controls was performed to investigate whether the polymorphisms of the methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), methionine synthase (MTR A2756G), carrier of reduced folate 1 (RFC-1 A80G) and thymidylate synthase (TYMS 2R > 3R) altered the risk for retinoblastoma. 20310006

2010
dbSNP: rs1042522
rs1042522
TP53
0.020 GeneticVariation BEFREE However, the rs1042</span>522 GC genotype showed a protective effect against RB invasion, as demonstrated by event-free survival (HR = 0.53, P = 0.007 for GC versus GG/CC). 26289323

2015
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: rs1050717570
rs1050717570
RB1 ; LOC112268118
0.700 GeneticVariation UNIPROT

dbSNP: rs1051266
rs1051266
SLC19A1
0.010 GeneticVariation BEFREE A case-control study of 72 retinoblastoma cases and 98 cancer-free children controls was performed to investigate whether the polymorphisms of the methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), methionine synthase (MTR A2756G), carrier of reduced folate 1 (RFC-1 A80G) and thymidylate synthase (TYMS 2R > 3R) altered the risk for retinoblastoma. 20310006

2010
dbSNP: rs1059234
rs1059234
CDKN1A
0.010 GeneticVariation BEFREE The minor alleles of polymorphisms rs1801270 C>A and rs1059234 C>T in CDKN1A (p21) gene may act as risk factors for the development of RB; however, they do not seem to influence overall survival. 24045412

2013
dbSNP: rs1060503067
rs1060503067
RB1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060503074
rs1060503074
RB1 ; LOC112268118
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1060503075
rs1060503075
RB1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060503077
rs1060503077
RB1 ; LOC112268118
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060503079
rs1060503079
RB1 ; LOC112268118
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060503087
rs1060503087
RB1 ; LOC112268118
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060503088
rs1060503088
RB1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1064792974
rs1064792974
RB1 ; RB1-DT
C 0.700 CausalMutation CLINVAR

dbSNP: rs1074182
rs1074182
RBL2
0.010 GeneticVariation BEFREE Using intragenic single nucleotide polymorphisms (SNPs) (rs1074182 and rs10748) and flanking extragenic microsatellite markers (D16S411 and D16S408), 40 retinoblastoma tumor samples were analyzed. 19252413

2009
dbSNP: rs10748
rs10748
RBL2
0.010 GeneticVariation BEFREE Using intragenic single nucleotide polymorphisms (SNPs) (rs1074182 and rs10748) and flanking extragenic microsatellite markers (D16S411 and D16S408), 40 retinoblastoma tumor samples were analyzed. 19252413

2009
dbSNP: rs1131690842
rs1131690842
RB1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1131690843
rs1131690843
RB1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1131690851
rs1131690851
RB1 ; LOC112268118
A 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in hereditary familial retinoblastoma. 17096365

2007
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: rs1131690852
rs1131690852
RB1 ; RB1-DT
AC 0.700 CausalMutation CLINVAR Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma. 12541220

2003
dbSNP: rs1131690852
rs1131690852
RB1 ; RB1-DT
AC 0.700 CausalMutation CLINVAR Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma. 26539030

2015
dbSNP: rs1131690852
rs1131690852
RB1 ; RB1-DT
AC 0.700 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
dbSNP: rs1131690860
rs1131690860
RB1 ; LOC112268118
A 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in hereditary familial retinoblastoma. 17096365

2007
dbSNP: rs1131690860
rs1131690860
RB1 ; LOC112268118
T 0.700 GeneticVariation CLINVAR