DisGeNET - a database of gene-disease associations

rs2230028, ABCB4

N. diseases: 5

Disease: Cholestasis of pregnancy ×

Source: ALL

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Cholestasis of pregnancy

CUI:	C0268318
Disease:	Cholestasis of pregnancy

0.010

GeneticVariation

BEFREE

The chromosomal frequency of the p.Arg652Gly variant did not differ between the ICP and control group (p = 0.40).

2009