rs587776886

Orientation

plus

Stabilized

plus

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

Make rs587776886(G;G)

Reference

GRCh38 38.1/142

Chromosome

19

Position

11120608

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs587776886
dbSNP (classic)	rs587776886
ClinGen	rs587776886
ebi	rs587776886
HLI	rs587776886
Exac	rs587776886
Gnomad	rs587776886
Varsome	rs587776886
LitVar	rs587776886
Map	rs587776886
PheGenI	rs587776886
Biobank	rs587776886
1000 genomes	rs587776886
hgdp	rs587776886
ensembl	rs587776886
geneview	rs587776886
scholar	rs587776886
google	rs587776886
pharmgkb	rs587776886
gwascentral	rs587776886
openSNP	rs587776886
23andMe	rs587776886
SNPshot	rs587776886
SNPdbe	rs587776886
MSV3d	rs587776886
GWAS Ctlg	rs587776886

Max Magnitude

5

aka c.2140+86C>G

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

ClinVar
Risk	rs587776886(G;G) rs587776886(T;T)
Alt	rs587776886(G;G) rs587776886(T;T)
Reference	Rs587776886(C;C)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11231284C>G
CLNSRC	LDLR @ LOVD OMIM Allelic Variant
CLNACC	RCV000023602.3,