rs879254517

Orientation

plus

Stabilized

plus

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

Make rs879254517(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11105321

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254517
dbSNP (classic)	rs879254517
ClinGen	rs879254517
ebi	rs879254517
HLI	rs879254517
Exac	rs879254517
Gnomad	rs879254517
Varsome	rs879254517
LitVar	rs879254517
Map	rs879254517
PheGenI	rs879254517
Biobank	rs879254517
1000 genomes	rs879254517
hgdp	rs879254517
ensembl	rs879254517
geneview	rs879254517
scholar	rs879254517
google	rs879254517
pharmgkb	rs879254517
gwascentral	rs879254517
openSNP	rs879254517
23andMe	rs879254517
SNPshot	rs879254517
SNPdbe	rs879254517
MSV3d	rs879254517
GWAS Ctlg	rs879254517

Max Magnitude

5

ClinVar
Risk	rs879254517(A;A) rs879254517(C;C)
Alt	rs879254517(A;A) rs879254517(C;C)
Reference	Rs879254517(G;G)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11215997G>A; NC_000019.9:g.11215997G>C
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237450.1, RCV000238010.1,