rs879254444

Orientation

plus

Stabilized

plus

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

Make rs879254444(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11102713

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254444
dbSNP (classic)	rs879254444
ClinGen	rs879254444
ebi	rs879254444
HLI	rs879254444
Exac	rs879254444
Gnomad	rs879254444
Varsome	rs879254444
LitVar	rs879254444
Map	rs879254444
PheGenI	rs879254444
Biobank	rs879254444
1000 genomes	rs879254444
hgdp	rs879254444
ensembl	rs879254444
geneview	rs879254444
scholar	rs879254444
google	rs879254444
pharmgkb	rs879254444
gwascentral	rs879254444
openSNP	rs879254444
23andMe	rs879254444
SNPshot	rs879254444
SNPdbe	rs879254444
MSV3d	rs879254444
GWAS Ctlg	rs879254444

Max Magnitude

5

ClinVar
Risk	rs879254444(A;A)
Alt	rs879254444(A;A)
Reference	Rs879254444(C;C)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11213389C>A
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237930.1,