rs1057519679

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;GCCA)	5	Familial Hypercholesterolemia
(CCAG;CCAG)	0	common in clinvar
(GCCA;GCCA)	0	common/normal

Chromosome

19

Position

11120226

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1057519679
dbSNP (classic)	rs1057519679
ClinGen	rs1057519679
ebi	rs1057519679
HLI	rs1057519679
Exac	rs1057519679
Gnomad	rs1057519679
Varsome	rs1057519679
LitVar	rs1057519679
Map	rs1057519679
PheGenI	rs1057519679
Biobank	rs1057519679
1000 genomes	rs1057519679
hgdp	rs1057519679
ensembl	rs1057519679
geneview	rs1057519679
scholar	rs1057519679
google	rs1057519679
pharmgkb	rs1057519679
gwascentral	rs1057519679
openSNP	rs1057519679
23andMe	rs1057519679
SNPshot	rs1057519679
SNPdbe	rs1057519679
MSV3d	rs1057519679
GWAS Ctlg	rs1057519679

Max Magnitude

5

ClinVar
Risk	rs1057519679(-;-)
Alt	rs1057519679(-;-)
Reference	Rs1057519679(CCAG;CCAG)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11230902_11230905delGCCA
CLNSRC
CLNACC	RCV000417358.1,