rs1057519681

Orientation

plus

Stabilized

plus

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

Chromosome

19

Position

11120450

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1057519681
dbSNP (classic)	rs1057519681
ClinGen	rs1057519681
ebi	rs1057519681
HLI	rs1057519681
Exac	rs1057519681
Gnomad	rs1057519681
Varsome	rs1057519681
LitVar	rs1057519681
Map	rs1057519681
PheGenI	rs1057519681
Biobank	rs1057519681
1000 genomes	rs1057519681
hgdp	rs1057519681
ensembl	rs1057519681
geneview	rs1057519681
scholar	rs1057519681
google	rs1057519681
pharmgkb	rs1057519681
gwascentral	rs1057519681
openSNP	rs1057519681
23andMe	rs1057519681
SNPshot	rs1057519681
SNPdbe	rs1057519681
MSV3d	rs1057519681
GWAS Ctlg	rs1057519681

Max Magnitude

5

ClinVar
Risk	rs1057519681(C;C)
Alt	rs1057519681(C;C)
Reference	Rs1057519681(-;-)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11231126dupC
CLNSRC
CLNACC	RCV000417349.1,