rs879254452

Orientation

plus

Stabilized

plus

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

Make rs879254452(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11102733

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254452
dbSNP (classic)	rs879254452
ClinGen	rs879254452
ebi	rs879254452
HLI	rs879254452
Exac	rs879254452
Gnomad	rs879254452
Varsome	rs879254452
LitVar	rs879254452
Map	rs879254452
PheGenI	rs879254452
Biobank	rs879254452
1000 genomes	rs879254452
hgdp	rs879254452
ensembl	rs879254452
geneview	rs879254452
scholar	rs879254452
google	rs879254452
pharmgkb	rs879254452
gwascentral	rs879254452
openSNP	rs879254452
23andMe	rs879254452
SNPshot	rs879254452
SNPdbe	rs879254452
MSV3d	rs879254452
GWAS Ctlg	rs879254452

Max Magnitude

5

ClinVar
Risk	rs879254452(A;A)
Alt	rs879254452(A;A)
Reference	Rs879254452(G;G)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11213409G>A
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237181.1,