Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167806
rs1114167806
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. 28874130

2017
dbSNP: rs1114167806
rs1114167806
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. 26787237

2016
dbSNP: rs1114167806
rs1114167806
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR MSH2 c.1452-1455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population. 15042510

2004
dbSNP: rs1114167806
rs1114167806
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR A636P testing in Ashkenazi Jews. 15516845

2004
dbSNP: rs1114167806
rs1114167806
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 CausalMutation CLINVAR MSH2 c.1452-1455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population. 15042510

2004
dbSNP: rs1114167806
rs1114167806
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 CausalMutation CLINVAR Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancers. 12386821

2002
dbSNP: rs1114167806
rs1114167806
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancers. 12386821

2002
dbSNP: rs1114167806
rs1114167806
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer. 10413423

1999
dbSNP: rs1114167806
rs1114167806
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 CausalMutation CLINVAR Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer. 10413423

1999
dbSNP: rs1114167806
rs1114167806
MSH2
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1114167806
rs1114167806
MSH2
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1114167806
rs1114167806
MSH2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1114167806
rs1114167806
MSH2
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1114167806
rs1114167806
MSH2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1114167806
rs1114167806
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		TAATG 0.700 CausalMutation CLINVAR