DisGeNET - a database of gene-disease associations

Hereditary Non-Polyposis Colon Cancer Type 2, C1333991

Variant: rs63750937 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs63750937

MSH2

0.700

GeneticVariation

CLINVAR

Cancer risk in Lynch Syndrome.

23604856

2013

dbSNP:

rs63750937

MSH2

0.700

GeneticVariation

CLINVAR

Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

21642682

2011

dbSNP:

rs63750937

MSH2

0.700

GeneticVariation

CLINVAR

Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications.

19659756

2009

dbSNP:

rs63750937

MSH2

0.700

GeneticVariation

CLINVAR

Concise handbook of familial cancer susceptibility syndromes - second edition.

18559331

2008

dbSNP:

rs63750937

MSH2

0.700

GeneticVariation

CLINVAR

Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families.

15943554

2005