Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11540652
rs11540652
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs11540652
rs11540652
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs11540652
rs11540652
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121912651
rs121912651
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121912651
rs121912651
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1042522
rs1042522
0.030 GeneticVariation BEFREE These data underscore the importance of TP53 R72P and MDM2 SNP309 SNPs in MDS, and provide a novel scoring system independent of IPSS that is predictive for disease outcome. 26416416

2015

dbSNP: rs1042522
rs1042522
0.030 GeneticVariation BEFREE These findings comprise the largest MDS R72P SNP analysis. 25768405

2015

dbSNP: rs1131691014
rs1131691014
0.030 GeneticVariation BEFREE These findings comprise the largest MDS R72P SNP analysis. 25768405

2015

dbSNP: rs1131691014
rs1131691014
0.030 GeneticVariation BEFREE These data underscore the importance of TP53 R72P and MDM2 SNP309 SNPs in MDS, and provide a novel scoring system independent of IPSS that is predictive for disease outcome. 26416416

2015

dbSNP: rs878854066
rs878854066
0.030 GeneticVariation BEFREE These data underscore the importance of TP53 R72P and MDM2 SNP309 SNPs in MDS, and provide a novel scoring system independent of IPSS that is predictive for disease outcome. 26416416

2015

dbSNP: rs878854066
rs878854066
0.030 GeneticVariation BEFREE These findings comprise the largest MDS R72P SNP analysis. 25768405

2015

dbSNP: rs1042522
rs1042522
0.030 GeneticVariation BEFREE Our results showed that the frequencies of genotypes for MDM2 SNP309 and TP53 Arg72Pro did not differ between MDS and healthy controls and that these polymorphisms were not associated with clinical and laboratory parameters, disease progression and overall survival, suggesting that MDM2 and TP53 polymorphisms are not involved in risk for MDS, or in the clinical and laboratory characteristics of the disease. 22668018

2012

dbSNP: rs1131691014
rs1131691014
0.030 GeneticVariation BEFREE Our results showed that the frequencies of genotypes for MDM2 SNP309 and TP53 Arg72Pro did not differ between MDS and healthy controls and that these polymorphisms were not associated with clinical and laboratory parameters, disease progression and overall survival, suggesting that MDM2 and TP53 polymorphisms are not involved in risk for MDS, or in the clinical and laboratory characteristics of the disease. 22668018

2012

dbSNP: rs878854066
rs878854066
0.030 GeneticVariation BEFREE Our results showed that the frequencies of genotypes for MDM2 SNP309 and TP53 Arg72Pro did not differ between MDS and healthy controls and that these polymorphisms were not associated with clinical and laboratory parameters, disease progression and overall survival, suggesting that MDM2 and TP53 polymorphisms are not involved in risk for MDS, or in the clinical and laboratory characteristics of the disease. 22668018

2012

dbSNP: rs1057520007
rs1057520007
0.010 GeneticVariation BEFREE We infer that U2AF1 S34 mutations characterize a distinct subgroup of MDS: younger age of onset and differential associations with particular cytogenetic aberrations depending on specific mutations [S34Y to +8; S34F to +8 and del(20q)]. 28938223

2017

dbSNP: rs1131691041
rs1131691041
0.010 GeneticVariation BEFREE We infer that U2AF1 S34 mutations characterize a distinct subgroup of MDS: younger age of onset and differential associations with particular cytogenetic aberrations depending on specific mutations [S34Y to +8; S34F to +8 and del(20q)]. 28938223

2017

dbSNP: rs72661120
rs72661120
0.010 GeneticVariation BEFREE We found a novel G to C transversion resulting in a change from Ala to Gly at codon 507 of CHK2 in one MDS sample, but normal cells from this individual did not have the abnormality. 11248330

2001