DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Serum total cholesterol measurement ×

Variant: rs12654264 ×

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:

rs12654264

HMGCR

CUI:	C1445957
Disease:	Serum total cholesterol measurement

Serum total cholesterol measurement

0.800

GeneticVariation

GWASCAT

Genetic analyses of diverse populations improves discovery for complex traits.

31217584

2019

dbSNP:

rs12654264

HMGCR

CUI:	C1445957
Disease:	Serum total cholesterol measurement

Serum total cholesterol measurement

0.800

GeneticVariation

GWASDB

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

23063622

2012