MSH6, mutS homolog 6, 2956

N. diseases: 296; N. variants: 642
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786201042
rs786201042
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
T 0.710 CausalMutation CLINVAR We identified an MSH6 mutation (c.10C>T, p.Gln4*) causing Lynch syndrome (LS) in 11 French Canadian (FC) families from the Canadian province of Quebec. 25318681 2015
dbSNP: rs786201042
rs786201042
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
T 0.710 CausalMutation CLINVAR Risks of Lynch syndrome cancers for MSH6 mutation carriers. 20028993 2010
dbSNP: rs786201042
rs786201042
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
0.710 GeneticVariation BEFREE We identified an MSH6 mutation (c.10C>T, p.Gln4*) causing Lynch syndrome (LS) in 11 French Canadian (FC) families from the Canadian province of Quebec. 25318681 2015
dbSNP: rs786201042
rs786201042
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer
T 0.710 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
dbSNP: rs1064794075
rs1064794075
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms
AG 0.700 GeneticVariation CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816 2014
dbSNP: rs1064794075
rs1064794075
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms
AG 0.700 GeneticVariation CLINVAR Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts. 18269114 2008
dbSNP: rs1064794075
rs1064794075
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
AG 0.700 GeneticVariation CLINVAR
dbSNP: rs1114167719
rs1114167719
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR
dbSNP: rs1114167734
rs1114167734
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1553408127
rs1553408127
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C1833477
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553408136
rs1553408136
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms
TG 0.700 CausalMutation CLINVAR
dbSNP: rs1553408158
rs1553408158
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553408245
rs1553408245
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C1833477
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
CCTTCCCCA 0.700 GeneticVariation CLINVAR
dbSNP: rs1553408267
rs1553408267
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
CGGCCTGGAGCGAGGCTG 0.700 CausalMutation CLINVAR
dbSNP: rs1553408306
rs1553408306
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms
G 0.700 CausalMutation CLINVAR
dbSNP: rs1553408380
rs1553408380
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C1833477
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1553408388
rs1553408388
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Risks of Lynch syndrome cancers for MSH6 mutation carriers. 20028993 2010
dbSNP: rs1553408388
rs1553408388
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Comment on: Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients. 17909073 2007
dbSNP: rs1553408388
rs1553408388
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. 16885385 2006
dbSNP: rs1553408388
rs1553408388
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms
T 0.700 CausalMutation CLINVAR Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. 16885385 2006
dbSNP: rs1553408388
rs1553408388
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms
T 0.700 CausalMutation CLINVAR Risks of Lynch syndrome cancers for MSH6 mutation carriers. 20028993 2010
dbSNP: rs1553408388
rs1553408388
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms
T 0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
dbSNP: rs1553408388
rs1553408388
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
dbSNP: rs1553408388
rs1553408388
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms
T 0.700 CausalMutation CLINVAR Comment on: Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients. 17909073 2007
dbSNP: rs1553408467
rs1553408467
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
C 0.700 GeneticVariation CLINVAR