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rs28362263

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1.5 Modest reduction in LDL-C and coronary risk
(A;G) 1.5 Modest reduction in LDL-C and coronary risk
(G;G) 0 common
ReferenceGRCh38 38.1/141
Chromosome1
Position55058182
GenePCSK9
is asnp
is mentioned by
dbSNPrs28362263
ebirs28362263
HLIrs28362263
Exacrs28362263
Varsomers28362263
Maprs28362263
PheGenIrs28362263
hapmaprs28362263
1000 genomesrs28362263
hgdprs28362263
ensemblrs28362263
gopubmedrs28362263
geneviewrs28362263
scholarrs28362263
googlers28362263
pharmgkbrs28362263
gwascentralrs28362263
openSNPrs28362263
23andMers28362263
23andMe allrs28362263
SNP Nexus

SNPshotrs28362263
SNPdbers28362263
MSV3drs28362263
GWAS Ctlgrs28362263
GMAF0.02158
Max Magnitude1.5
rs28362263, also known as A443T, is a SNP in the PCSK9 gene.

It has been reported in several studies (including [PMID 16912035] and [PMID 16465619OA-icon.png]) to be a loss-of-function mutation leading to modestly (~3%) lowered LDL-C levels and thereby somewhat reduced risk for coronary events.


[PMID 20031607OA-icon.png] Longitudinal association of PCSK9 sequence variations with low-density lipoprotein cholesterol levels: the Coronary Artery Risk Development in Young Adults Study.