rs1057519663

Orientation

plus

Stabilized

plus

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

Make rs1057519663(A;A)

Chromosome

19

Position

11106653

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1057519663
dbSNP (classic)	rs1057519663
ClinGen	rs1057519663
ebi	rs1057519663
HLI	rs1057519663
Exac	rs1057519663
Gnomad	rs1057519663
Varsome	rs1057519663
LitVar	rs1057519663
Map	rs1057519663
PheGenI	rs1057519663
Biobank	rs1057519663
1000 genomes	rs1057519663
hgdp	rs1057519663
ensembl	rs1057519663
geneview	rs1057519663
scholar	rs1057519663
google	rs1057519663
pharmgkb	rs1057519663
gwascentral	rs1057519663
openSNP	rs1057519663
23andMe	rs1057519663
SNPshot	rs1057519663
SNPdbe	rs1057519663
MSV3d	rs1057519663
GWAS Ctlg	rs1057519663

Max Magnitude

5

aka c.783C>A (p.Cys261Ter)

ClinVar
Risk	rs1057519663(A;A)
Alt	rs1057519663(A;A)
Reference	Rs1057519663(C;C)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11217329C>A
CLNSRC
CLNACC	RCV000417302.1,