Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519727
rs1057519727
HERC2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		G 0.700 CausalMutation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880

2013