rs1057519682

Orientation

plus

Stabilized

plus

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

Make rs1057519682(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

11120460

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1057519682
dbSNP (classic)	rs1057519682
ClinGen	rs1057519682
ebi	rs1057519682
HLI	rs1057519682
Exac	rs1057519682
Gnomad	rs1057519682
Varsome	rs1057519682
LitVar	rs1057519682
Map	rs1057519682
PheGenI	rs1057519682
Biobank	rs1057519682
1000 genomes	rs1057519682
hgdp	rs1057519682
ensembl	rs1057519682
geneview	rs1057519682
scholar	rs1057519682
google	rs1057519682
pharmgkb	rs1057519682
gwascentral	rs1057519682
openSNP	rs1057519682
23andMe	rs1057519682
SNPshot	rs1057519682
SNPdbe	rs1057519682
MSV3d	rs1057519682
GWAS Ctlg	rs1057519682

Max Magnitude

5

ClinVar
Risk	rs1057519682(A;A)
Alt	rs1057519682(A;A)
Reference	Rs1057519682(-;-)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11231136dupA
CLNSRC
CLNACC	RCV000417295.1,