DisGeNET - a database of gene-disease associations

Congenital arteriovenous malformation, C0003857

Variant: rs9509 ×

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:

rs9509

rs9509

MMP9 ; SLC12A5-AS1

0.010

GeneticVariation

BEFREE

The rs9509 polymorphism of MMP-9 is associated with risk of hemorrhage in brain arteriovenous malformations.

2012