rs745753810

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	5	Familial Hypercholesterolemia
(C;G)	5	Familial Hypercholesterolemia
(G;G)	0	common/normal
(G;T)	5	Familial Hypercholesterolemia

Make rs745753810(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11120408

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs745753810
dbSNP (classic)	rs745753810
ClinGen	rs745753810
ebi	rs745753810
HLI	rs745753810
Exac	rs745753810
Gnomad	rs745753810
Varsome	rs745753810
LitVar	rs745753810
Map	rs745753810
PheGenI	rs745753810
Biobank	rs745753810
1000 genomes	rs745753810
hgdp	rs745753810
ensembl	rs745753810
geneview	rs745753810
scholar	rs745753810
google	rs745753810
pharmgkb	rs745753810
gwascentral	rs745753810
openSNP	rs745753810
23andMe	rs745753810
SNPshot	rs745753810
SNPdbe	rs745753810
MSV3d	rs745753810
GWAS Ctlg	rs745753810

Max Magnitude

5

This variant in the LDLR gene is reported as meeting at least one of three criteria considered pathogenic for familial hypercholesterolemia and therefore significantly higher risk of coronary artery disease in a sequencing based study of 26,000 participants.[PMID 27050191]

ClinVar
Risk	rs745753810(A;A) rs745753810(C;C)
Alt	rs745753810(A;A) rs745753810(C;C)
Reference	Rs745753810(G;G)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11231084G>A; NC_000019.9:g.11231084G>C
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237787.1, RCV000238171.1,