Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs876658944
rs876658944
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		A 0.700 CausalMutation CLINVAR Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. 26182300

2015
dbSNP: rs876658932
rs876658932
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		T 0.700 CausalMutation CLINVAR Tumor genome analysis includes germline genome: are we ready for surprises? 25123297

2015
dbSNP: rs876658865
rs876658865
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		T 0.700 CausalMutation CLINVAR Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC). 30745422

2019
dbSNP: rs876658575
rs876658575
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		T 0.700 CausalMutation CLINVAR Somatic mutations in CDH1 and CTNNB1 in primary carcinomas at 13 anatomic sites. 29156750

2017
dbSNP: rs876658261
rs876658261
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		T 0.700 CausalMutation CLINVAR E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer. 10477433

1999
dbSNP: rs864622655
rs864622655
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		G 0.700 CausalMutation CLINVAR

dbSNP: rs786203752
rs786203752
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		A 0.700 CausalMutation CLINVAR Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. 26182300

2015
dbSNP: rs786203752
rs786203752
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		A 0.700 GeneticVariation CLINVAR Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. 26182300

2015
dbSNP: rs786203752
rs786203752
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		A 0.700 CausalMutation CLINVAR The importance of E-cadherin binding partners to evaluate the pathogenicity of E-cadherin missense mutations associated to HDGC. 22850631

2013
dbSNP: rs786203576
rs786203576
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		A 0.700 CausalMutation CLINVAR Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status. 28688938

2018
dbSNP: rs786203576
rs786203576
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		A 0.700 CausalMutation CLINVAR Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. 10072428

1999
dbSNP: rs786203089
rs786203089
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs786202785
rs786202785
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		T 0.700 CausalMutation CLINVAR

dbSNP: rs786202151
rs786202151
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		C 0.700 CausalMutation CLINVAR

dbSNP: rs786202151
rs786202151
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs786202033
rs786202033
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		T 0.700 CausalMutation CLINVAR

dbSNP: rs786201058
rs786201058
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs786201058
rs786201058
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		T 0.700 CausalMutation CLINVAR

dbSNP: rs781409616
rs781409616
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		T 0.700 CausalMutation CLINVAR Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. 17545690

2007
dbSNP: rs771085839
rs771085839
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		C 0.700 GeneticVariation CLINVAR Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. 15235021

2004
dbSNP: rs771085839
rs771085839
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		C 0.700 GeneticVariation CLINVAR Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice. 20373070

2010
dbSNP: rs730881663
rs730881663
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs587783050
rs587783050
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		A 0.700 CausalMutation CLINVAR Prophylactic total gastrectomy in the management of hereditary tumor syndromes. 27682646

2016
dbSNP: rs587783050
rs587783050
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		A 0.700 CausalMutation CLINVAR A short guide to hereditary diffuse gastric cancer. 19725995

2007
dbSNP: rs587783050
rs587783050
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		A 0.700 GeneticVariation CLINVAR Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer. 19965908

2010