Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060501248
rs1060501248
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1064794231
rs1064794231
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574

2015
dbSNP: rs1064794231
rs1064794231
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175

2015
dbSNP: rs1064794231
rs1064794231
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 GeneticVariation UNIPROT Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance. 22388873

2012
dbSNP: rs1064794231
rs1064794231
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 GeneticVariation UNIPROT American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 20065170

2010
dbSNP: rs1064794231
rs1064794231
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.700 GeneticVariation UNIPROT American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. 17392385

2007
dbSNP: rs1064795267
rs1064795267
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		C 0.700 CausalMutation CLINVAR Panel testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer. 27064202

2016
dbSNP: rs1064795267
rs1064795267
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		C 0.700 CausalMutation CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395

2016
dbSNP: rs1064795267
rs1064795267
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		C 0.700 CausalMutation CLINVAR Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. 26182300

2015
dbSNP: rs1064795267
rs1064795267
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		C 0.700 CausalMutation CLINVAR Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice. 20373070

2010
dbSNP: rs1064795267
rs1064795267
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		C 0.700 CausalMutation CLINVAR Mechanisms and sequelae of E-cadherin silencing in hereditary diffuse gastric cancer. 18788075

2008
dbSNP: rs1064795267
rs1064795267
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		C 0.700 CausalMutation CLINVAR Hereditary diffuse gastric cancer: association with lobular breast cancer. 18046629

2008
dbSNP: rs1064795267
rs1064795267
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		C 0.700 CausalMutation CLINVAR Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. 15235021

2004
dbSNP: rs1064795267
rs1064795267
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		C 0.700 CausalMutation CLINVAR Novel germline CDH1 mutations in hereditary diffuse gastric cancer families. 11968084

2002
dbSNP: rs1064795703
rs1064795703
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1131690808
rs1131690808
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		A 0.700 GeneticVariation CLINVAR Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice. 20373070

2010
dbSNP: rs1131690808
rs1131690808
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		A 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: rs1131690810
rs1131690810
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131690815
rs1131690815
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		T 0.700 CausalMutation CLINVAR Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. 26182300

2015
dbSNP: rs1131690819
rs1131690819
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs113583899
rs113583899
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: rs113583899
rs113583899
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: rs121964873
rs121964873
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs121964874
rs121964874
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121964875
rs121964875
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