rs28942081

Familial Hypercholesterolemia. A GGC-to-GAC 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

11116144

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs28942081
dbSNP (classic)	rs28942081
ClinGen	rs28942081
ebi	rs28942081
HLI	rs28942081
Exac	rs28942081
Gnomad	rs28942081
Varsome	rs28942081
LitVar	rs28942081
Map	rs28942081
PheGenI	rs28942081
Biobank	rs28942081
1000 genomes	rs28942081
hgdp	rs28942081
ensembl	rs28942081
geneview	rs28942081
scholar	rs28942081
google	rs28942081
pharmgkb	rs28942081
gwascentral	rs28942081
openSNP	rs28942081
23andMe	rs28942081
SNPshot	rs28942081
SNPdbe	rs28942081
MSV3d	rs28942081
GWAS Ctlg	rs28942081

Max Magnitude

5

aka c.1637G>A, p.Gly546Asp or G546D; also known as FH Saint Omer

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

OMIM	606945
Desc	FH SAINT OMER
Variant	0012
Related	also

ClinVar
Risk	Rs28942081(A;A) rs28942081(T;T)
Alt	Rs28942081(A;A) rs28942081(T;T)
Reference	Rs28942081(G;G)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11226820G>A; NC_000019.9:g.11226820G>T
CLNSRC	LDLR @ LOVD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003885.5, RCV000237102.1,