DisGeNET - a database of gene-disease associations

ABCB1, ATP binding cassette subfamily B member 1, 5243

N. diseases: 933; N. variants: 59

Disease: Hypertensive disease ×

Variant: rs3789243 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs3789243

Entrez Id:	5243
Gene Symbol:	ABCB1

ABCB1

CUI:	C0020538
Disease:

Hypertensive disease

0.010

GeneticVariation

BEFREE

Rs17327624 (p = 2.818 × 10-4, beta = 2.753) and rs3789243 (p = 6.345 × 10-3, beta = 1.497) were significantly associated with diastolic blood pressure (DBP) and rs17327624 was significantly associated with hypertension (p = 1.746 × 10-4, OR = 1.605).

27649668

2016