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: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 GeneticVariation BEFREE HER2 S310Y single site substitution was discovered in recent years and afatinib efficacy for adenocarcinoma patients harboring S310Y mutation has not been reported. 29561699

2018
dbSNP: rs372043866
rs372043866
ERBB2
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 GeneticVariation BEFREE In particular, 3 of 4 adenocarcinomas with EGFR mutations (all L858R point mutations in women, never or former smokers) had a concomitant and identical mutation in AAH, and 2 of 4 adenocarcinomas with K-ras mutations (both at codon 12 in women, a never and a current smoker) showed the same mutation in concomitant AAH.All cases were wild-type for HER2. 18208799

2008
dbSNP: rs542027040
rs542027040
ERBB2 ; MIR4728
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 GeneticVariation BEFREE One eccrine gland adenocarcinoma showed allelic loss of 17p and a Cys 176 Arg mutation in the p53 gene. 10660129

2000