rs387906305

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;AC)	5	Familial Hypercholesterolemia
(AC;AC)	0	common in clinvar

Make rs387906305(-;-)

Reference

GRCh38 38.1/142

Chromosome

19

Position

11105586

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs387906305
dbSNP (classic)	rs387906305
ClinGen	rs387906305
ebi	rs387906305
HLI	rs387906305
Exac	rs387906305
Gnomad	rs387906305
Varsome	rs387906305
LitVar	rs387906305
Map	rs387906305
PheGenI	rs387906305
Biobank	rs387906305
1000 genomes	rs387906305
hgdp	rs387906305
ensembl	rs387906305
geneview	rs387906305
scholar	rs387906305
google	rs387906305
pharmgkb	rs387906305
gwascentral	rs387906305
openSNP	rs387906305
23andMe	rs387906305
SNPshot	rs387906305
SNPdbe	rs387906305
MSV3d	rs387906305
GWAS Ctlg	rs387906305

Max Magnitude

5

aka c.680_681delAC or p.Asp227Glyfs

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

ClinVar
Risk	rs387906305(-;-)
Alt	rs387906305(-;-)
Reference	Rs387906305(AC;AC)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216262_11216263delAC
CLNSRC	LDLR @ LOVD OMIM Allelic Variant
CLNACC	RCV000003929.6,