DisGeNET - a database of gene-disease associations

Hereditary Nonpolyposis Colorectal Cancer, C1333990

Variant: rs587778617 ×

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:

rs587778617

PMS2

0.710

GeneticVariation

BEFREE

Carrying PMS2 germline mutations (c.943C>T) confers an extremely high susceptibility of suffering from LS-associated cancers.

31056861

2019

dbSNP:

rs587778617

PMS2

0.710

CausalMutation

CLINVAR

The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers.

26110232

2016