Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519816
rs1057519816
ERBB2
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.020 GeneticVariation BEFREE Clinically, S310F is most frequent among HER2 extracellular domain mutations and patients with the S310F mutation without HER2 amplification responded to trastuzumab with or without the pertuzumab combination. 31635022

2019
dbSNP: rs1057519816
rs1057519816
ERBB2
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.020 GeneticVariation BEFREE The NGS revealed HER-2 amplification as well as an activating mutation S310F and PDX models tested several drugs finding that afatinib was the optimal agent with notable efficacy and well tolerance among 6 regimens. 30307354

2019