Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913470
rs121913470
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913470
rs121913470
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913470
rs121913470
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
C 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913470
rs121913470
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
C 0.700 GeneticVariation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880

2013

dbSNP: rs121913470
rs121913470
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
G 0.700 GeneticVariation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880

2013

dbSNP: rs121913470
rs121913470
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
C 0.700 GeneticVariation CLINVAR Differential sensitivity of ERBB2 kinase domain mutations towards lapatinib. 22046346

2011

dbSNP: rs121913470
rs121913470
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
C 0.700 GeneticVariation CLINVAR EXEL-7647 inhibits mutant forms of ErbB2 associated with lapatinib resistance and neoplastic transformation. 18413839

2008