DisGeNET - a database of gene-disease associations

Cerebrovascular accident, C0038454

Variant: rs72653706 ×

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:

rs72653706

rs72653706

ABCC6

0.710

GeneticVariation

BEFREE

Here we investigated the association of the c.3421C>T loss-of-function mutation of ABCC6 and CAD and stroke.

2010

dbSNP:

rs72653706

rs72653706

ABCC6

A

0.710

CausalMutation

CLINVAR