rs879254606

Orientation

plus

Stabilized

plus

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

Make rs879254606(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11105548

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254606
dbSNP (classic)	rs879254606
ClinGen	rs879254606
ebi	rs879254606
HLI	rs879254606
Exac	rs879254606
Gnomad	rs879254606
Varsome	rs879254606
LitVar	rs879254606
Map	rs879254606
PheGenI	rs879254606
Biobank	rs879254606
1000 genomes	rs879254606
hgdp	rs879254606
ensembl	rs879254606
geneview	rs879254606
scholar	rs879254606
google	rs879254606
pharmgkb	rs879254606
gwascentral	rs879254606
openSNP	rs879254606
23andMe	rs879254606
SNPshot	rs879254606
SNPdbe	rs879254606
MSV3d	rs879254606
GWAS Ctlg	rs879254606

Max Magnitude

5

ClinVar
Risk	rs879254606(A;A)
Alt	rs879254606(A;A)
Reference	Rs879254606(G;G)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216224G>A
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238519.1,