rs28942079

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)		risk of hypercholesterolemia
(A;G)	5	Familial Hypercholesterolemia
(C;G)	5	Familial Hypercholesterolemia
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

19

Position

11113382

Gene	LDLR, MIR6886

is a	snp
is	mentioned by
dbSNP	rs28942079
dbSNP (classic)	rs28942079
ClinGen	rs28942079
ebi	rs28942079
HLI	rs28942079
Exac	rs28942079
Gnomad	rs28942079
Varsome	rs28942079
LitVar	rs28942079
Map	rs28942079
PheGenI	rs28942079
Biobank	rs28942079
1000 genomes	rs28942079
hgdp	rs28942079
ensembl	rs28942079
geneview	rs28942079
scholar	rs28942079
google	rs28942079
pharmgkb	rs28942079
gwascentral	rs28942079
openSNP	rs28942079
23andMe	rs28942079
SNPshot	rs28942079
SNPdbe	rs28942079
MSV3d	rs28942079
GWAS Ctlg	rs28942079

Max Magnitude

5

aka c.1291G>A, p.Ala431Thr or A431T; also known as FH Algeria

reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease [PMID 2377494] hypercholesterolemia

OMIM	606945
Desc	FH ALGERIA
Variant	0010
Related	also

ClinVar
Risk	Rs28942079(A;A) rs28942079(C;C)
Alt	Rs28942079(A;A) rs28942079(C;C)
Reference	Rs28942079(G;G)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR MIR6886
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11224058G>A; NC_000019.9:g.11224058G>C
CLNSRC	LDLR @ LOVD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003883.7, RCV000030126.1,