rs377271627

Orientation

plus

Stabilized

plus

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

Make rs377271627(G;G)

Reference

GRCh38 38.1/142

Chromosome

19

Position

11102769

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs377271627
dbSNP (classic)	rs377271627
ClinGen	rs377271627
ebi	rs377271627
HLI	rs377271627
Exac	rs377271627
Gnomad	rs377271627
Varsome	rs377271627
LitVar	rs377271627
Map	rs377271627
PheGenI	rs377271627
Biobank	rs377271627
1000 genomes	rs377271627
hgdp	rs377271627
ensembl	rs377271627
geneview	rs377271627
scholar	rs377271627
google	rs377271627
pharmgkb	rs377271627
gwascentral	rs377271627
openSNP	rs377271627
23andMe	rs377271627
SNPshot	rs377271627
SNPdbe	rs377271627
MSV3d	rs377271627
GWAS Ctlg	rs377271627

Max Magnitude

5

aka c.296C>G, p.Ser99Ter or S99X

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

ClinVar
Risk	rs377271627(G;G)
Alt	rs377271627(G;G)
Reference	Rs377271627(C;C)
Significance	Pathogenic
Disease	Hypercholesterolaemia Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Hypercholesterolaemia Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11213445C>G
CLNSRC	LDLR @ LOVD
CLNACC	RCV000148574.1, RCV000238369.1,