DisGeNET - a database of gene-disease associations

Hereditary Nonpolyposis Colorectal Cancer, C1333990

Variant: rs587778914 ×

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:

rs587778914

rs587778914

MLH1

0.710

GeneticVariation

BEFREE

Q48P mutation in the hMLH1 gene associated with Lynch syndrome in three Hungarian families.

2012

dbSNP:

rs587778914

rs587778914

MLH1

C

0.710

GeneticVariation

CLINVAR