rs879254546

Orientation

plus

Stabilized

plus

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

Make rs879254546(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11105401

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254546
dbSNP (classic)	rs879254546
ClinGen	rs879254546
ebi	rs879254546
HLI	rs879254546
Exac	rs879254546
Gnomad	rs879254546
Varsome	rs879254546
LitVar	rs879254546
Map	rs879254546
PheGenI	rs879254546
Biobank	rs879254546
1000 genomes	rs879254546
hgdp	rs879254546
ensembl	rs879254546
geneview	rs879254546
scholar	rs879254546
google	rs879254546
pharmgkb	rs879254546
gwascentral	rs879254546
openSNP	rs879254546
23andMe	rs879254546
SNPshot	rs879254546
SNPdbe	rs879254546
MSV3d	rs879254546
GWAS Ctlg	rs879254546

Max Magnitude

5

ClinVar
Risk	rs879254546(A;A)
Alt	rs879254546(A;A)
Reference	Rs879254546(G;G)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216077G>A
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238049.1,