Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746481984
rs746481984
CDH1
0.720 GeneticVariation BEFREE Through genetic, transcriptional, in silico and in vitro studies, we demonstrate the deleterious effect of the c.1679C>G variant and its association with hereditary diffuse gastric cancer, providing relevant data to relatives and allowing an accurate genetic counseling. 29769627

2018
dbSNP: rs746481984
rs746481984
CDH1
0.720 GeneticVariation BEFREE These results support the conclusion that CDH1 c.1679C>G (p.T560R) variant is a pathogenic mutation and contributes to HDGC through disruption of normal splicing. 27880784

2016
dbSNP: rs587780784
rs587780784
CDH1
0.710 GeneticVariation BEFREE One of 23 (4.3 %) HDGC patients had a CDH1 germline mutation (c.1003C>T). 23264079

2013
dbSNP: rs1057517542
rs1057517542
CDH1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501224
rs1060501224
CDH1
A 0.700 GeneticVariation CLINVAR Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. 26182300

2015
dbSNP: rs1060501237
rs1060501237
CDH1
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: rs1060501237
rs1060501237
CDH1
C 0.700 GeneticVariation CLINVAR Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice. 20373070

2010
dbSNP: rs1060501244
rs1060501244
CDH1
A 0.700 GeneticVariation CLINVAR Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. 17545690

2007
dbSNP: rs1060501244
rs1060501244
CDH1
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: rs1060501248
rs1060501248
CDH1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1064794231
rs1064794231
CDH1
0.700 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574

2015
dbSNP: rs1064794231
rs1064794231
CDH1
0.700 GeneticVariation UNIPROT Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance. 22388873

2012
dbSNP: rs1064794231
rs1064794231
CDH1
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
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
0.700 GeneticVariation UNIPROT American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. 17392385

2007
dbSNP: rs1064795703
rs1064795703
CDH1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1131690808
rs1131690808
CDH1
A 0.700 GeneticVariation CLINVAR Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice. 20373070

2010
dbSNP: rs1131690808
rs1131690808
CDH1
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: rs1131690819
rs1131690819
CDH1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs113583899
rs113583899
CDH1
C 0.700 GeneticVariation CLINVAR Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice. 20373070

2010
dbSNP: rs113583899
rs113583899
CDH1
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
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121964878
rs121964878
CDH1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1375617541
rs1375617541
CDH1
TC 0.700 GeneticVariation CLINVAR E-cadherin germline mutations in familial gastric cancer. 9537325

1998
dbSNP: rs1385720097
rs1385720097
CDH1
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