rs779940524

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;C)	5	Familial Hypercholesterolemia

Make rs779940524(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11120182

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs779940524
dbSNP (classic)	rs779940524
ClinGen	rs779940524
ebi	rs779940524
HLI	rs779940524
Exac	rs779940524
Gnomad	rs779940524
Varsome	rs779940524
LitVar	rs779940524
Map	rs779940524
PheGenI	rs779940524
Biobank	rs779940524
1000 genomes	rs779940524
hgdp	rs779940524
ensembl	rs779940524
geneview	rs779940524
scholar	rs779940524
google	rs779940524
pharmgkb	rs779940524
gwascentral	rs779940524
openSNP	rs779940524
23andMe	rs779940524
SNPshot	rs779940524
SNPdbe	rs779940524
MSV3d	rs779940524
GWAS Ctlg	rs779940524

Max Magnitude

5

ClinVar
Risk	rs779940524(A;A)
Alt	rs779940524(A;A)
Reference	Rs779940524(C;C)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11230858C>A
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238167.1,