DisGeNET - a database of gene-disease associations

CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (disorder), C1970440

Variant: rs397515474 ×

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:

rs397515474

LRP6 ; BCL2L14

0.800

GeneticVariation

UNIPROT

Rare nonconservative LRP6 mutations are associated with metabolic syndrome.

23703864

2013

dbSNP:

rs397515474

LRP6 ; BCL2L14

0.800

GeneticVariation

UNIPROT

LRP6 mutation in a family with early coronary disease and metabolic risk factors.

17332414

2007

dbSNP:

rs397515474

LRP6 ; BCL2L14

0.800

CausalMutation

CLINVAR