rs387906304

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;CCCATCA)	5	Familial Hypercholesterolemia
(ACCCATC;ACCCATC)	0	common in clinvar
(CCCATCA;CCCATCA)	0	common/normal

Make rs387906304(-;-)

Reference

GRCh38 38.1/142

Chromosome

19

Position

11107499

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs387906304
dbSNP (classic)	rs387906304
ClinGen	rs387906304
ebi	rs387906304
HLI	rs387906304
Exac	rs387906304
Gnomad	rs387906304
Varsome	rs387906304
LitVar	rs387906304
Map	rs387906304
PheGenI	rs387906304
Biobank	rs387906304
1000 genomes	rs387906304
hgdp	rs387906304
ensembl	rs387906304
geneview	rs387906304
scholar	rs387906304
google	rs387906304
pharmgkb	rs387906304
gwascentral	rs387906304
openSNP	rs387906304
23andMe	rs387906304
SNPshot	rs387906304
SNPdbe	rs387906304
MSV3d	rs387906304
GWAS Ctlg	rs387906304

Max Magnitude

5

aka c.925_931delCCCATCA or p.Pro309Lysfs

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

ClinVar
Risk	rs387906304(-;-)
Alt	rs387906304(-;-)
Reference	Rs387906304(ACCCATC;ACCCATC)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11218175_11218181delCCCATCA
CLNSRC	LDLR @ LOVD OMIM Allelic Variant
CLNACC	RCV000003927.5,