Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9929218
rs9929218
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
G 0.850 GeneticVariation GWASCAT We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-10)), 16q22.1 (rs9929218, CDH1; P = 1.2 x 10(-8)), 19q13.1 (rs10411210, RHPN2; P = 4.6 x 10(-9)) and 20p12.3 (rs961253; P = 2.0 x 10(-10)). 19011631

2008

dbSNP: rs9929218
rs9929218
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
G 0.850 GeneticVariation GWASDB We identified four previously unreported CRC risk loci at 14q22.2 (rs4444235, BMP4; P = 8.1 x 10(-10)), 16q22.1 (rs9929218, CDH1; P = 1.2 x 10(-8)), 19q13.1 (rs10411210, RHPN2; P = 4.6 x 10(-9)) and 20p12.3 (rs961253; P = 2.0 x 10(-10)). 19011631

2008

dbSNP: rs1555515445
rs1555515445
CUI: C4551988
Disease: BLEPHAROCHEILODONTIC SYNDROME 1
BLEPHAROCHEILODONTIC SYNDROME 1
0.800 GeneticVariation UNIPROT Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1. 28301459

2017

dbSNP: rs9939049
rs9939049
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
A 0.710 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142

2019

dbSNP: rs9929218
rs9929218
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
G 0.710 GeneticVariation GWASCAT Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. 19011631

2008

dbSNP: rs9939049
rs9939049
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
A 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142

2019

dbSNP: rs9939049
rs9939049
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
A 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142

2019

dbSNP: rs9939049
rs9939049
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
A 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142

2019

dbSNP: rs9939049
rs9939049
Malignant neoplasm of large intestine
A 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142

2019

dbSNP: rs9939049
rs9939049
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
A 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142

2019

dbSNP: rs9939049
rs9939049
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
A 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142

2019

dbSNP: rs9939049
rs9939049
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
A 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142

2019

dbSNP: rs9939049
rs9939049
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
A 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142

2019

dbSNP: rs9929218
rs9929218
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
G 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. 19011631

2008

dbSNP: rs9929218
rs9929218
Malignant neoplasm of large intestine
G 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. 19011631

2008

dbSNP: rs9929218
rs9929218
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
G 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. 19011631

2008

dbSNP: rs9929218
rs9929218
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
G 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. 19011631

2008

dbSNP: rs9929218
rs9929218
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
G 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. 19011631

2008

dbSNP: rs9929218
rs9929218
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
G 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. 19011631

2008

dbSNP: rs9929218
rs9929218
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
G 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. 19011631

2008

dbSNP: rs9929218
rs9929218
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
0.700 GeneticVariation GWASDB A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci. 20512145

2010

dbSNP: rs971882211
rs971882211
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
T 0.700 GeneticVariation CLINVAR Germline CDH1 mutations in bilateral lobular carcinoma in situ. 24366306

2014

dbSNP: rs886041161
rs886041161
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 GeneticVariation CLINVAR

dbSNP: rs886041161
rs886041161
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
C 0.700 GeneticVariation CLINVAR Epigenetic and genetic alterations of APC and CDH1 genes in lobular breast cancer: relationships with abnormal E-cadherin and catenin expression and microsatellite instability. 12800196

2003

dbSNP: rs886041161
rs886041161
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