rs793888521

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	5	Familial Hypercholesterolemia
(G;G)	0	common in clinvar

Make rs793888521(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

55052364

Gene

PCSK9

is a	snp
is	mentioned by
dbSNP	rs793888521
dbSNP (classic)	rs793888521
ClinGen	rs793888521
ebi	rs793888521
HLI	rs793888521
Exac	rs793888521
Gnomad	rs793888521
Varsome	rs793888521
LitVar	rs793888521
Map	rs793888521
PheGenI	rs793888521
Biobank	rs793888521
1000 genomes	rs793888521
hgdp	rs793888521
ensembl	rs793888521
geneview	rs793888521
scholar	rs793888521
google	rs793888521
pharmgkb	rs793888521
gwascentral	rs793888521
openSNP	rs793888521
23andMe	rs793888521
SNPshot	rs793888521
SNPdbe	rs793888521
MSV3d	rs793888521
GWAS Ctlg	rs793888521

Max Magnitude

5

ClinVar
Risk	rs793888521(A;A)
Alt	rs793888521(A;A)
Reference	Rs793888521(G;G)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	PCSK9
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000001.10:g.55518037G>A
CLNSRC
CLNACC	RCV000172975.1,