DisGeNET - a database of gene-disease associations

Colorectal Adenomatous Polyposis, Autosomal Recessive, C1837991

Variant: rs878854193 ×

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:

rs878854193

rs878854193

MUTYH

A

0.700

GeneticVariation

CLINVAR

MUTYH-associated polyposis (MAP).

2011

dbSNP:

rs878854193

rs878854193

MUTYH

A

0.700

GeneticVariation

CLINVAR

Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

2008