rs376459828

Orientation

plus

Stabilized

plus

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

Make rs376459828(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11105496

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs376459828
dbSNP (classic)	rs376459828
ClinGen	rs376459828
ebi	rs376459828
HLI	rs376459828
Exac	rs376459828
Gnomad	rs376459828
Varsome	rs376459828
LitVar	rs376459828
Map	rs376459828
PheGenI	rs376459828
Biobank	rs376459828
1000 genomes	rs376459828
hgdp	rs376459828
ensembl	rs376459828
geneview	rs376459828
scholar	rs376459828
google	rs376459828
pharmgkb	rs376459828
gwascentral	rs376459828
openSNP	rs376459828
23andMe	rs376459828
SNPshot	rs376459828
SNPdbe	rs376459828
MSV3d	rs376459828
GWAS Ctlg	rs376459828

Max Magnitude

5

aka c.590G>A, p.Cys197Tyr or C197Y; also c.590G>T, p.Cys197Phe or C197F

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

ClinVar
Risk	rs376459828(A;A) rs376459828(T;T)
Alt	rs376459828(A;A) rs376459828(T;T)
Reference	Rs376459828(G;G)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216172G>A; NC_000019.9:g.11216172G>T
CLNSRC	LDLR @ LOVD UniProtKB (protein)
CLNACC	RCV000237811.2, RCV000238173.2,