rs875989898

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11105224

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs875989898
dbSNP (classic)	rs875989898
ClinGen	rs875989898
ebi	rs875989898
HLI	rs875989898
Exac	rs875989898
Gnomad	rs875989898
Varsome	rs875989898
LitVar	rs875989898
Map	rs875989898
PheGenI	rs875989898
Biobank	rs875989898
1000 genomes	rs875989898
hgdp	rs875989898
ensembl	rs875989898
geneview	rs875989898
scholar	rs875989898
google	rs875989898
pharmgkb	rs875989898
gwascentral	rs875989898
openSNP	rs875989898
23andMe	rs875989898
SNPshot	rs875989898
SNPdbe	rs875989898
MSV3d	rs875989898
GWAS Ctlg	rs875989898

Max Magnitude

5

aka c.314-2168dupC and also c.314-2168delC; both are considered pathogenic in ClinVar for FH

23andMe name for c.314-2168dupC: i705059

ClinVar
Risk	Rs875989898(-;-)
Alt	Rs875989898(-;-)
Reference	Rs875989898(C;C)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11215900delC
CLNSRC
CLNACC	RCV000211608.1,