rs1057519685

Orientation

plus

Stabilized

plus

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

Chromosome

19

Position

11120516

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1057519685
dbSNP (classic)	rs1057519685
ClinGen	rs1057519685
ebi	rs1057519685
HLI	rs1057519685
Exac	rs1057519685
Gnomad	rs1057519685
Varsome	rs1057519685
LitVar	rs1057519685
Map	rs1057519685
PheGenI	rs1057519685
Biobank	rs1057519685
1000 genomes	rs1057519685
hgdp	rs1057519685
ensembl	rs1057519685
geneview	rs1057519685
scholar	rs1057519685
google	rs1057519685
pharmgkb	rs1057519685
gwascentral	rs1057519685
openSNP	rs1057519685
23andMe	rs1057519685
SNPshot	rs1057519685
SNPdbe	rs1057519685
MSV3d	rs1057519685
GWAS Ctlg	rs1057519685

Max Magnitude

5

ClinVar
Risk	rs1057519685(C;C)
Alt	rs1057519685(C;C)
Reference	Rs1057519685(-;-)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11231192dupC
CLNSRC
CLNACC	RCV000417262.1,