rs387906302

Orientation

plus

Stabilized

plus

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

Make rs387906302(AGAA;AGAA)

Reference

GRCh38 38.1/142

Chromosome

19

Position

11129573

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs387906302
dbSNP (classic)	rs387906302
ClinGen	rs387906302
ebi	rs387906302
HLI	rs387906302
Exac	rs387906302
Gnomad	rs387906302
Varsome	rs387906302
LitVar	rs387906302
Map	rs387906302
PheGenI	rs387906302
Biobank	rs387906302
1000 genomes	rs387906302
hgdp	rs387906302
ensembl	rs387906302
geneview	rs387906302
scholar	rs387906302
google	rs387906302
pharmgkb	rs387906302
gwascentral	rs387906302
openSNP	rs387906302
23andMe	rs387906302
SNPshot	rs387906302
SNPdbe	rs387906302
MSV3d	rs387906302
GWAS Ctlg	rs387906302

Max Magnitude

5

aka c.2447_2450dupAGAA or p.Asn817Lysfs

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

ClinVar
Risk	rs387906302(AAGA;AAGA)
Alt	rs387906302(AAGA;AAGA)
Reference	Rs387906302(-;-)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11240246_11240249dupAGAA
CLNSRC	LDLR @ LOVD OMIM Allelic Variant
CLNACC	RCV000003895.5,