DisGeNET - a database of gene-disease associations

Chronic Obstructive Airway Disease, C0024117

Variant: rs6647 ×

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:

rs6647

rs6647

SERPINA1

0.010

GeneticVariation

BEFREE

The SERPINA1 p.V213A polymorphism was found associated with DB risk while the ADRB2 p.G16R is a risk factor for severe COPD in smokers.

2010