Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519738
rs1057519738
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
A 0.700 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1057519738
rs1057519738
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
A 0.700 CausalMutation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880

2013

dbSNP: rs1057519738
rs1057519738
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
A 0.700 CausalMutation CLINVAR Somatic mutations of ERBB2 kinase domain in gastric, colorectal, and breast carcinomas. 16397024

2006