rs759858813

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;G)	5	Familial Hypercholesterolemia

Make rs759858813(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11120482

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs759858813
dbSNP (classic)	rs759858813
ClinGen	rs759858813
ebi	rs759858813
HLI	rs759858813
Exac	rs759858813
Gnomad	rs759858813
Varsome	rs759858813
LitVar	rs759858813
Map	rs759858813
PheGenI	rs759858813
Biobank	rs759858813
1000 genomes	rs759858813
hgdp	rs759858813
ensembl	rs759858813
geneview	rs759858813
scholar	rs759858813
google	rs759858813
pharmgkb	rs759858813
gwascentral	rs759858813
openSNP	rs759858813
23andMe	rs759858813
SNPshot	rs759858813
SNPdbe	rs759858813
MSV3d	rs759858813
GWAS Ctlg	rs759858813

Max Magnitude

5

ClinVar
Risk	rs759858813(G;G) rs759858813(T;T)
Alt	rs759858813(G;G) rs759858813(T;T)
Reference	Rs759858813(C;C)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11231158C>G
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237946.1,