rs879254506

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 rs879254506(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11105289

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254506
dbSNP (classic)	rs879254506
ClinGen	rs879254506
ebi	rs879254506
HLI	rs879254506
Exac	rs879254506
Gnomad	rs879254506
Varsome	rs879254506
LitVar	rs879254506
Map	rs879254506
PheGenI	rs879254506
Biobank	rs879254506
1000 genomes	rs879254506
hgdp	rs879254506
ensembl	rs879254506
geneview	rs879254506
scholar	rs879254506
google	rs879254506
pharmgkb	rs879254506
gwascentral	rs879254506
openSNP	rs879254506
23andMe	rs879254506
SNPshot	rs879254506
SNPdbe	rs879254506
MSV3d	rs879254506
GWAS Ctlg	rs879254506

Max Magnitude

5

ClinVar
Risk	rs879254506(A;A) rs879254506(C;C) rs879254506(T;T)
Alt	rs879254506(A;A) rs879254506(C;C) rs879254506(T;T)
Reference	Rs879254506(G;G)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11215965G>A; NC_000019.9:g.11215965G>C; NC_000019.9:g.11215965G>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000417308.1, RCV000454616.1, RCV000237592.1,