rs1057519683

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;C)	5	Familial Hypercholesterolemia
(C;C)	0	common in clinvar

Chromosome

19

Position

11120467

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1057519683
dbSNP (classic)	rs1057519683
ClinGen	rs1057519683
ebi	rs1057519683
HLI	rs1057519683
Exac	rs1057519683
Gnomad	rs1057519683
Varsome	rs1057519683
LitVar	rs1057519683
Map	rs1057519683
PheGenI	rs1057519683
Biobank	rs1057519683
1000 genomes	rs1057519683
hgdp	rs1057519683
ensembl	rs1057519683
geneview	rs1057519683
scholar	rs1057519683
google	rs1057519683
pharmgkb	rs1057519683
gwascentral	rs1057519683
openSNP	rs1057519683
23andMe	rs1057519683
SNPshot	rs1057519683
SNPdbe	rs1057519683
MSV3d	rs1057519683
GWAS Ctlg	rs1057519683

Max Magnitude

5

ClinVar
Risk	rs1057519683(-;-)
Alt	rs1057519683(-;-)
Reference	Rs1057519683(C;C)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11231143delC
CLNSRC
CLNACC	RCV000417239.1,