DisGeNET - a database of gene-disease associations

Coronary heart disease, C0010068

Variant: rs2254638 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs2254638

N6AMT1

0.020

GeneticVariation

BEFREE

Association of <i>N6AMT1</i> rs2254638 Polymorphism With Clopidogrel Response in Chinese Patients With Coronary Artery Disease.

30283338

2018

dbSNP:

rs2254638

N6AMT1

0.020

GeneticVariation

BEFREE

Using a genomewide association study (GWAS) to identify new genetic loci that modify antiplatelet effects in Chinese patients with coronary heart disease, we identified novel variants in two transporter genes (SLC14A2 rs12456693, ATP-binding cassette [ABC]A1 rs2487032) and in N6AMT1 (rs2254638) associated with P2Y12 reaction unit (PRU) and plasma active metabolite (H4) concentration.

27981573

2017