rs879254954

Orientation

plus

Stabilized

plus

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

Make rs879254954(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11116108

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254954
dbSNP (classic)	rs879254954
ClinGen	rs879254954
ebi	rs879254954
HLI	rs879254954
Exac	rs879254954
Gnomad	rs879254954
Varsome	rs879254954
LitVar	rs879254954
Map	rs879254954
PheGenI	rs879254954
Biobank	rs879254954
1000 genomes	rs879254954
hgdp	rs879254954
ensembl	rs879254954
geneview	rs879254954
scholar	rs879254954
google	rs879254954
pharmgkb	rs879254954
gwascentral	rs879254954
openSNP	rs879254954
23andMe	rs879254954
SNPshot	rs879254954
SNPdbe	rs879254954
MSV3d	rs879254954
GWAS Ctlg	rs879254954

Max Magnitude

5

ClinVar
Risk	rs879254954(A;A)
Alt	rs879254954(A;A)
Reference	Rs879254954(C;C)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11226784C>A
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237154.1,