DisGeNET - a database of gene-disease associations

Hereditary Nonpolyposis Colorectal Neoplasms, C0009405

Variant: rs730881762 ×

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:

rs730881762

MSH2

0.700

CausalMutation

CLINVAR

Systematic study on genetic and epimutational profile of a cohort of Amsterdam criteria-defined Lynch Syndrome in Singapore.

24710284

2014

dbSNP:

rs730881762

MSH2

0.700

CausalMutation

CLINVAR

Cancer risk in 348 French MSH2 or MLH1 gene carriers.

12624141

2003