rs879255224

Orientation

plus

Stabilized

plus

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

Make rs879255224(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11129671

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879255224
dbSNP (classic)	rs879255224
ClinGen	rs879255224
ebi	rs879255224
HLI	rs879255224
Exac	rs879255224
Gnomad	rs879255224
Varsome	rs879255224
LitVar	rs879255224
Map	rs879255224
PheGenI	rs879255224
Biobank	rs879255224
1000 genomes	rs879255224
hgdp	rs879255224
ensembl	rs879255224
geneview	rs879255224
scholar	rs879255224
google	rs879255224
pharmgkb	rs879255224
gwascentral	rs879255224
openSNP	rs879255224
23andMe	rs879255224
SNPshot	rs879255224
SNPdbe	rs879255224
MSV3d	rs879255224
GWAS Ctlg	rs879255224

Max Magnitude

5

ClinVar
Risk	rs879255224(A;A)
Alt	rs879255224(A;A)
Reference	Rs879255224(G;G)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11240347G>A
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237756.2,