Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964877
rs121964877
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs121964877
rs121964877
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		T 0.700 CausalMutation CLINVAR De novo CDH1 mutation in a family presenting with early-onset diffuse gastric cancer. 21696387

2012
dbSNP: rs121964877
rs121964877
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		T 0.700 CausalMutation CLINVAR Germline mutations of the E-cadherin gene in families with inherited invasive lobular breast carcinoma but no diffuse gastric cancer. 21271559

2011
dbSNP: rs121964877
rs121964877
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		T 0.700 CausalMutation CLINVAR Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer. 19965908

2010
dbSNP: rs121964877
rs121964877
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		T 0.700 CausalMutation CLINVAR Mechanisms and sequelae of E-cadherin silencing in hereditary diffuse gastric cancer. 18788075

2008
dbSNP: rs121964877
rs121964877
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		T 0.700 CausalMutation CLINVAR Characterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management. 16061854

2005
dbSNP: rs121964877
rs121964877
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		T 0.700 CausalMutation CLINVAR Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations. 11419427

2001
dbSNP: rs121964877
rs121964877
CDH1
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		T 0.700 CausalMutation CLINVAR Identification of germ-line E-cadherin mutations in gastric cancer families of European origin. 9751616

1998