rs28362286

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

55063542

Gene

PCSK9

is a	snp
is	mentioned by
dbSNP	rs28362286
dbSNP (classic)	rs28362286
ClinGen	rs28362286
ebi	rs28362286
HLI	rs28362286
Exac	rs28362286
Gnomad	rs28362286
Varsome	rs28362286
LitVar	rs28362286
Map	rs28362286
PheGenI	rs28362286
Biobank	rs28362286
1000 genomes	rs28362286
hgdp	rs28362286
ensembl	rs28362286
geneview	rs28362286
scholar	rs28362286
google	rs28362286
pharmgkb	rs28362286
gwascentral	rs28362286
openSNP	rs28362286
23andMe	rs28362286
SNPshot	rs28362286
SNPdbe	rs28362286
MSV3d	rs28362286
GWAS Ctlg	rs28362286

GMAF

0.003214

Max Magnitude

3

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.

OMIM	607786
Desc	LOW DENSITY LIPOPROTEIN CHOLESTEROL, LOW PLASMA LEVELS OF
Variant	0005
Related	also

ClinVar
Risk	Rs28362286(A;A) rs28362286(T;T)
Alt	Rs28362286(A;A) rs28362286(T;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 20031607 ] Longitudinal association of PCSK9 sequence variations with low-density lipoprotein cholesterol levels: the Coronary Artery Risk Development in Young Adults Study.