rs137852912

plus

Geno	Mag	Summary
(C;G)	5	Familial Hypercholesterolemia
(G;G)	0	common in clinvar
(G;T)	4	Dominant mutation associated with Familial Hypercholesterolemia

Make rs137852912(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

55057454

Gene

PCSK9

is a	snp
is	mentioned by
dbSNP	rs137852912
dbSNP (classic)	rs137852912
ClinGen	rs137852912
ebi	rs137852912
HLI	rs137852912
Exac	rs137852912
Gnomad	rs137852912
Varsome	rs137852912
LitVar	rs137852912
Map	rs137852912
PheGenI	rs137852912
Biobank	rs137852912
1000 genomes	rs137852912
hgdp	rs137852912
ensembl	rs137852912
geneview	rs137852912
scholar	rs137852912
google	rs137852912
pharmgkb	rs137852912
gwascentral	rs137852912
openSNP	rs137852912
23andMe	rs137852912
SNPshot	rs137852912
SNPdbe	rs137852912
MSV3d	rs137852912
GWAS Ctlg	rs137852912

Max Magnitude

5

aka c.1120G>T, p.Asp374Tyr or D374Y

reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease

This SNP was not present on earlier versions of the Ancestry v2 DNA chip (originally released ~May 2016), but is now present in some "v2" data files from Ancestry starting sometime in 2018.

OMIM	607786
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137852912(A;A) rs137852912(C;C) rs137852912(T;T)
Alt	rs137852912(A;A) rs137852912(C;C) rs137852912(T;T)
Reference	Rs137852912(G;G)
Significance	Pathogenic
Disease	Familial hypercholesterolemia Hypercholesterolemia
Variation	info
Gene	PCSK9
CLNDBN	Familial hypercholesterolemia Hypercholesterolemia, autosomal dominant, 3
Reversed	0
HGVS	NC_000001.10:g.55523127G>C; NC_000001.10:g.55523127G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000256334.1, RCV000003009.3,