rs28942078

plus

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

Reference

GRCh38 38.1/141

Chromosome

19

Position

11113376

Gene	LDLR, MIR6886

is a	snp
is	mentioned by
dbSNP	rs28942078
dbSNP (classic)	rs28942078
ClinGen	rs28942078
ebi	rs28942078
HLI	rs28942078
Exac	rs28942078
Gnomad	rs28942078
Varsome	rs28942078
LitVar	rs28942078
Map	rs28942078
PheGenI	rs28942078
Biobank	rs28942078
1000 genomes	rs28942078
hgdp	rs28942078
ensembl	rs28942078
geneview	rs28942078
scholar	rs28942078
google	rs28942078
pharmgkb	rs28942078
gwascentral	rs28942078
openSNP	rs28942078
23andMe	rs28942078
SNPshot	rs28942078
SNPdbe	rs28942078
MSV3d	rs28942078
GWAS Ctlg	rs28942078

Max Magnitude

5

aka c.1285G>A, p.Val429Met or V429M; also known as FH Afrikaner 2

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

(A;A) familial hypercholesterolemia

23% frequency among Afrikaners, which, if true, would mean a substantial tendency towards hypercholesterolemia if this variant is truly associated with such a risk

1.5% frequency among Dutch

OMIM	606945
Desc	FH AFRIKANER 2
Variant	0009
Related	also

ClinVar
Risk	Rs28942078(A;A) rs28942078(C;C) rs28942078(T;T)
Alt	Rs28942078(A;A) rs28942078(C;C) rs28942078(T;T)
Reference	Rs28942078(G;G)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR MIR6886
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11224052G>A; NC_000019.9:g.11224052G>C; NC_000019.9:g.11224052G>T
CLNSRC	LDLR @ LOVD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003882.9, RCV000211588.3, RCV000238117.1,