Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104886003
rs104886003
A 0.710 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs104886003
rs104886003
C 0.710 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs104894230
rs104894230
G 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121909229
rs121909229
C 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121909229
rs121909229
T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121909229
rs121909229
0.710 GeneticVariation BEFREE In this study, we predicted and analyzed the impact of three deleterious coding non-synonymous single nucleotide polymorphisms rs121909218 (G129E), rs121909229 (R130Q) and rs57374291 (D107N) in the PTEN gene on the phenotype of breast tumors using computational tools SIFT, Polyphen-2, PROVEAN, MUPro, POPMusic and the GETAREA server. 27221918

2016

dbSNP: rs121909229
rs121909229
A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs17849781
rs17849781
A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs17849781
rs17849781
T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs28934874
rs28934874
T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs28934874
rs28934874
A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs760043106
rs760043106
G 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs760043106
rs760043106
C 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs760043106
rs760043106
0.710 GeneticVariation BEFREE Our analyses suggest that there are fundamental differences in breast tumors of CHEK2:p.I157T and c.1100delC carriers. 27716369

2016

dbSNP: rs876660754
rs876660754
A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs876660754
rs876660754
T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs104886003
rs104886003
A 0.710 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs104894230
rs104894230
T 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs17849781
rs17849781
0.710 GeneticVariation BEFREE We have predicted three deleterious coding non-synonymous single nucleotide polymorphisms rs11540654 (R110P), rs17849781 (P278A) and rs28934874 (P151T) in TP53 with a phenotype in breast tumors using computational tools SIFT, Polyphen-2 and MutDB. 25105660

2014

dbSNP: rs28934874
rs28934874
0.710 GeneticVariation BEFREE We have predicted three deleterious coding non-synonymous single nucleotide polymorphisms rs11540654 (R110P), rs17849781 (P278A) and rs28934874 (P151T) in TP53 with a phenotype in breast tumors using computational tools SIFT, Polyphen-2 and MutDB. 25105660

2014

dbSNP: rs104886003
rs104886003
A 0.710 CausalMutation CLINVAR PIK3CA mutation H1047R is associated with response to PI3K/AKT/mTOR signaling pathway inhibitors in early-phase clinical trials. 23066039

2013

dbSNP: rs104886003
rs104886003
A 0.710 CausalMutation CLINVAR PIK3CA and AKT1 mutations have distinct effects on sensitivity to targeted pathway inhibitors in an isogenic luminal breast cancer model system. 23888070

2013

dbSNP: rs121912664
rs121912664
0.710 GeneticVariation BEFREE A TP53 founder mutation, p.R337H, is associated with phyllodes breast tumors in Brazil. 23794094

2013

dbSNP: rs104886003
rs104886003
C 0.710 CausalMutation CLINVAR Phase I, dose-escalation study of BKM120, an oral pan-Class I PI3K inhibitor, in patients with advanced solid tumors. 22162589

2012

dbSNP: rs104886003
rs104886003
C 0.710 CausalMutation CLINVAR Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials. 22162582

2012