DisGeNET - a database of gene-disease associations

Variant: rs17725246 ×

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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

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs17725246

NPC1L1

CUI:	C0202117
Disease:	Low density lipoprotein cholesterol measurement

Low density lipoprotein cholesterol measurement

0.800

GeneticVariation

GWASDB

Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

2012