Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
0.710 GeneticVariation BEFREE Application of these signatures to breast tumor gene expression data identified two novel discrete phenotypes characterized by concordant, aberrant activation of either the HER2, IGF1R, and AKT pathways ("the survival phenotype") or the EGFR, KRAS (G12V), RAF1, and BAD pathways ("the growth phenotype"). 28446242

2017
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
G 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
T 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs1056892
rs1056892
CBR3 ; CBR3-AS1
0.010 GeneticVariation BEFREE Another variant CBR3 730G>A was associated with higher doxorubicinol AUC (P=0.009, GG vs. AA) and CBR3 expression in breast tumor tissue (P=0.001, GG vs AA). 18551042

2008
dbSNP: rs1057517590
rs1057517590
BRCA1
C 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs1057518635
rs1057518635
BRCA2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518636
rs1057518636
BRCA1
GA 0.700 CausalMutation CLINVAR

dbSNP: rs1057518637
rs1057518637
BRCA2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518638
rs1057518638
BRCA2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519045
rs1057519045
FGFR2
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519699
rs1057519699
PIK3CA
A 0.700 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974

2008
dbSNP: rs1057519699
rs1057519699
PIK3CA
A 0.700 CausalMutation CLINVAR An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. 18676830

2008
dbSNP: rs1057519699
rs1057519699
PIK3CA
A 0.700 CausalMutation CLINVAR Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. 20453058

2010
dbSNP: rs1057519699
rs1057519699
PIK3CA
A 0.700 CausalMutation CLINVAR PIK3CA mutations correlate with hormone receptors, node metastasis, and ERBB2, and are mutually exclusive with PTEN loss in human breast carcinoma. 15805248

2005
dbSNP: rs1057519699
rs1057519699
PIK3CA
A 0.700 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370

2005
dbSNP: rs1057519699
rs1057519699
PIK3CA
A 0.700 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: rs1057519699
rs1057519699
PIK3CA
A 0.700 CausalMutation CLINVAR The PIK3CA gene is mutated with high frequency in human breast cancers. 15254419

2004
dbSNP: rs1057519699
rs1057519699
PIK3CA
A 0.700 CausalMutation CLINVAR Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials. 22162582

2012
dbSNP: rs1057519714
rs1057519714
ESR1
C 0.700 CausalMutation CLINVAR ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. 24185512

2013