rs1057519687

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;GACAATGT)	5	Familial Hypercholesterolemia
(GACAATGT;GACAATGT)	0	common/normal
(GTGACAAT;GTGACAAT)	0	common in clinvar

Chromosome

19

Position

11123328

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1057519687
dbSNP (classic)	rs1057519687
ClinGen	rs1057519687
ebi	rs1057519687
HLI	rs1057519687
Exac	rs1057519687
Gnomad	rs1057519687
Varsome	rs1057519687
LitVar	rs1057519687
Map	rs1057519687
PheGenI	rs1057519687
Biobank	rs1057519687
1000 genomes	rs1057519687
hgdp	rs1057519687
ensembl	rs1057519687
geneview	rs1057519687
scholar	rs1057519687
google	rs1057519687
pharmgkb	rs1057519687
gwascentral	rs1057519687
openSNP	rs1057519687
23andMe	rs1057519687
SNPshot	rs1057519687
SNPdbe	rs1057519687
MSV3d	rs1057519687
GWAS Ctlg	rs1057519687

Max Magnitude

5

ClinVar
Risk	rs1057519687(-;-)
Alt	rs1057519687(-;-)
Reference	Rs1057519687(GTGACAAT;GTGACAAT)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11234004_11234011delGACAATGT
CLNSRC
CLNACC	RCV000417229.1,