rs28941776

Familial Hypercholesterolemia. A GGT-to-GAT mutation is responsible for this variant (Leitersdorf and Hobbs, 1990).

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	3
(A;G)	5	Familial Hypercholesterolemia
(G;G)	0	common in complete genomics
(G;T)	5	Familial Hypercholesterolemia

Reference

GRCh38 38.1/141

Chromosome

19

Position

11116153

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs28941776
dbSNP (classic)	rs28941776
ClinGen	rs28941776
ebi	rs28941776
HLI	rs28941776
Exac	rs28941776
Gnomad	rs28941776
Varsome	rs28941776
LitVar	rs28941776
Map	rs28941776
PheGenI	rs28941776
Biobank	rs28941776
1000 genomes	rs28941776
hgdp	rs28941776
ensembl	rs28941776
geneview	rs28941776
scholar	rs28941776
google	rs28941776
pharmgkb	rs28941776
gwascentral	rs28941776
openSNP	rs28941776
23andMe	rs28941776
SNPshot	rs28941776
SNPdbe	rs28941776
MSV3d	rs28941776
GWAS Ctlg	rs28941776

Max Magnitude

5

aka c.1646G>A, p.Gly549Asp or G549D; also known as FH Genoa

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

OMIM	606945
Desc	FH GENOA
Variant	0013
Related	also

ClinVar
Risk	Rs28941776(A;A) rs28941776(T;T)
Alt	Rs28941776(A;A) rs28941776(T;T)
Reference	Rs28941776(G;G)
Significance	Other
Disease	Familial hypercholesterolemia not provided
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia not provided
Reversed	0
HGVS	NC_000019.9:g.11226829G>A; NC_000019.9:g.11226829G>T
CLNSRC	LDLR @ LOVD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003886.7, RCV000161997.1, RCV000237367.1,