rs1057519648

Orientation

plus

Stabilized

plus

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

Chromosome

19

Position

11089394

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1057519648
dbSNP (classic)	rs1057519648
ClinGen	rs1057519648
ebi	rs1057519648
HLI	rs1057519648
Exac	rs1057519648
Gnomad	rs1057519648
Varsome	rs1057519648
LitVar	rs1057519648
Map	rs1057519648
PheGenI	rs1057519648
Biobank	rs1057519648
1000 genomes	rs1057519648
hgdp	rs1057519648
ensembl	rs1057519648
geneview	rs1057519648
scholar	rs1057519648
google	rs1057519648
pharmgkb	rs1057519648
gwascentral	rs1057519648
openSNP	rs1057519648
23andMe	rs1057519648
SNPshot	rs1057519648
SNPdbe	rs1057519648
MSV3d	rs1057519648
GWAS Ctlg	rs1057519648

Max Magnitude

5

ClinVar
Risk	rs1057519648(-;-)
Alt	rs1057519648(-;-)
Reference	Rs1057519648(ACCCCA;ACCCCA)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11200070_11200075delACCCCA
CLNSRC
CLNACC	RCV000417311.1,