Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555515596
rs1555515596
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
G 0.700 CausalMutation CLINVAR Frequency of CDH1 germline mutations in gastric carcinoma coming from high- and low-risk areas: metanalysis and systematic review of the literature. 22225527

2012

dbSNP: rs1555515596
rs1555515596
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
G 0.700 CausalMutation CLINVAR A prospective study of total gastrectomy for CDH1-positive hereditary diffuse gastric cancer. 21424370

2011

dbSNP: rs1555515596
rs1555515596
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
G 0.700 CausalMutation CLINVAR Novel mechanism of a CDH1 splicing mutation in a Korean patient with signet ring cell carcinoma. 22118538

2011

dbSNP: rs1555515596
rs1555515596
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
G 0.700 CausalMutation CLINVAR Hereditary diffuse gastric cancer due to a previously undescribed CDH1 splice site mutation. 20624523

2010

dbSNP: rs1555515596
rs1555515596
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
G 0.700 CausalMutation CLINVAR Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice. 20373070

2010

dbSNP: rs1555515596
rs1555515596
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
G 0.700 CausalMutation CLINVAR [Hereditary gastric cancer]. 20824432

2010

dbSNP: rs1555515596
rs1555515596
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
G 0.700 CausalMutation CLINVAR Risk-reducing total gastrectomy for germline mutations in E-cadherin (CDH1): pathologic findings with clinical implications. 18391748

2008