rs28362263

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

55058182

Gene

PCSK9

is a	snp
is	mentioned by
dbSNP	rs28362263
dbSNP (classic)	rs28362263
ClinGen	rs28362263
ebi	rs28362263
HLI	rs28362263
Exac	rs28362263
Gnomad	rs28362263
Varsome	rs28362263
LitVar	rs28362263
Map	rs28362263
PheGenI	rs28362263
Biobank	rs28362263
1000 genomes	rs28362263
hgdp	rs28362263
ensembl	rs28362263
geneview	rs28362263
scholar	rs28362263
google	rs28362263
pharmgkb	rs28362263
gwascentral	rs28362263
openSNP	rs28362263
23andMe	rs28362263
SNPshot	rs28362263
SNPdbe	rs28362263
MSV3d	rs28362263
GWAS Ctlg	rs28362263

GMAF

0.02158

Max Magnitude

1.5

rs28362263, also known as A443T, is a SNP in the PCSK9 gene.

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

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

ClinVar
Risk	Rs28362263(A;A)
Alt	Rs28362263(A;A)
Reference	Rs28362263(G;G)
Significance	Other
Disease	not specified Familial hypobetalipoproteinemia Familial hypercholesterolemia Hypercholesterolemia
Variation	info
Gene	PCSK9
CLNDBN	not specified Familial hypobetalipoproteinemia Familial hypercholesterolemia Hypercholesterolemia, autosomal dominant, 3
Reversed	0
HGVS	NC_000001.10:g.55523855G>A
CLNSRC
CLNACC	RCV000241843.1, RCV000309633.1, RCV000362210.1, RCV000417327.1,