Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750488
rs63750488
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs63750488
rs63750488
MSH2
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs63750488
rs63750488
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer. 22883484

2013
dbSNP: rs63750488
rs63750488
MSH2
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		T 0.700 CausalMutation CLINVAR Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer. 22883484

2013
dbSNP: rs63750488
rs63750488
MSH2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer. 22883484

2013
dbSNP: rs63750488
rs63750488
MSH2
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		T 0.700 CausalMutation CLINVAR Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). 16451135

2006
dbSNP: rs63750488
rs63750488
MSH2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). 16451135

2006
dbSNP: rs63750488
rs63750488
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). 16451135

2006
dbSNP: rs63750488
rs63750488
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Early-age-at-onset colorectal cancer and microsatellite instability as markers of hereditary nonpolyposis colorectal cancer. 12626904

2003
dbSNP: rs63750488
rs63750488
MSH2
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		T 0.700 CausalMutation CLINVAR Early-age-at-onset colorectal cancer and microsatellite instability as markers of hereditary nonpolyposis colorectal cancer. 12626904

2003
dbSNP: rs63750488
rs63750488
MSH2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 CausalMutation CLINVAR Early-age-at-onset colorectal cancer and microsatellite instability as markers of hereditary nonpolyposis colorectal cancer. 12626904

2003
dbSNP: rs63750488
rs63750488
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		T 0.700 CausalMutation CLINVAR