rs1057519657

Orientation

plus

Stabilized

plus

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

Chromosome

19

Position

11105572

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1057519657
dbSNP (classic)	rs1057519657
ClinGen	rs1057519657
ebi	rs1057519657
HLI	rs1057519657
Exac	rs1057519657
Gnomad	rs1057519657
Varsome	rs1057519657
LitVar	rs1057519657
Map	rs1057519657
PheGenI	rs1057519657
Biobank	rs1057519657
1000 genomes	rs1057519657
hgdp	rs1057519657
ensembl	rs1057519657
geneview	rs1057519657
scholar	rs1057519657
google	rs1057519657
pharmgkb	rs1057519657
gwascentral	rs1057519657
openSNP	rs1057519657
23andMe	rs1057519657
SNPshot	rs1057519657
SNPdbe	rs1057519657
MSV3d	rs1057519657
GWAS Ctlg	rs1057519657

Max Magnitude

5

ClinVar
Risk	rs1057519657(CCGACTG;CCGACTG)
Alt	rs1057519657(CCGACTG;CCGACTG)
Reference	Rs1057519657(-;-)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216242_11216248dupCGACTGC
CLNSRC
CLNACC	RCV000417235.1,