Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
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: 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