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rs28362286

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 3 Lowered LDL-C and lower risk for coronary events
(A;C) 3 Lowered LDL-C and lower risk for coronary events
(C;C) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome1
Position55063542
GenePCSK9
is asnp
is mentioned by
dbSNPrs28362286
ebirs28362286
HLIrs28362286
Exacrs28362286
Varsomers28362286
Maprs28362286
PheGenIrs28362286
hapmaprs28362286
1000 genomesrs28362286
hgdprs28362286
ensemblrs28362286
gopubmedrs28362286
geneviewrs28362286
scholarrs28362286
googlers28362286
pharmgkbrs28362286
gwascentralrs28362286
openSNPrs28362286
23andMers28362286
23andMe allrs28362286
SNP Nexus

SNPshotrs28362286
SNPdbers28362286
MSV3drs28362286
GWAS Ctlgrs28362286
GMAF0.003214
Max Magnitude3
rs28362286, also known as C679X, is a SNP in the PCSK9 gene.

It has been reported in several studies (including [PMID 15654334]) to be both rare (2% frequency in Africans, 0.1% in Europeans) and as a dominant nonsense mutation a cause of plasma LDL-C levels being up to 40% lower than average. This lowered LDL-C level is thought to be directly associated with very significantly lowered risk for coronary events.

? (A;A) (A;C) (C;C) 28

23andMe blog The T version of rs11591147 and the A version of rs28362286 have both been associated with decreased LDL levels. Each copy of these variants leads to lower LDL cholesterol.

OMIM607786
DescLOW DENSITY LIPOPROTEIN CHOLESTEROL, LOW PLASMA LEVELS OF
Variant0005
Relatedalso
Neighborrs505151
Distance28
ClinVar
Risk rs28362286(A,T;A,T)
Alt rs28362286(A,T;A,T)
Reference rs28362286(C;C)
Significance Other
Disease Low density lipoprotein cholesterol level quantitative trait locus 1
Variation info
Gene PCSK9
CLNDBN Low density lipoprotein cholesterol level quantitative trait locus 1
Reversed 0
HGVS NC_000001.10:g.55529215C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003011.2,


[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.