DisGeNET - a database of gene-disease associations

HMGCR, 3-hydroxy-3-methylglutaryl-CoA reductase, 3156

N. diseases: 154; N. variants: 15

Disease: Hypercholesterolemia, Familial ×

Variant: rs3846662 ×

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:

rs3846662

Entrez Id:	3156
Gene Symbol:	HMGCR

HMGCR

CUI:	C0020445
Disease:

Hypercholesterolemia, Familial

0.010

GeneticVariation

BEFREE

Role of rs3846662 and HMGCR alternative splicing in statin efficacy and baseline lipid levels in familial hypercholesterolemia.

26466344

2016