rs879254592

Orientation

plus

Stabilized

plus

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

Make rs879254592(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11105517

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254592
dbSNP (classic)	rs879254592
ClinGen	rs879254592
ebi	rs879254592
HLI	rs879254592
Exac	rs879254592
Gnomad	rs879254592
Varsome	rs879254592
LitVar	rs879254592
Map	rs879254592
PheGenI	rs879254592
Biobank	rs879254592
1000 genomes	rs879254592
hgdp	rs879254592
ensembl	rs879254592
geneview	rs879254592
scholar	rs879254592
google	rs879254592
pharmgkb	rs879254592
gwascentral	rs879254592
openSNP	rs879254592
23andMe	rs879254592
SNPshot	rs879254592
SNPdbe	rs879254592
MSV3d	rs879254592
GWAS Ctlg	rs879254592

Max Magnitude

5

ClinVar
Risk	rs879254592(A;A) rs879254592(C;C) rs879254592(T;T)
Alt	rs879254592(A;A) rs879254592(C;C) rs879254592(T;T)
Reference	Rs879254592(G;G)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216193G>A; NC_000019.9:g.11216193G>C; NC_000019.9:g.11216193G>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237851.1, RCV000238584.1, RCV000237647.1,