rs1057516134

Orientation

plus

Stabilized

plus

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

Make rs1057516134(-;-)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

11120124

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1057516134
dbSNP (classic)	rs1057516134
ClinGen	rs1057516134
ebi	rs1057516134
HLI	rs1057516134
Exac	rs1057516134
Gnomad	rs1057516134
Varsome	rs1057516134
LitVar	rs1057516134
Map	rs1057516134
PheGenI	rs1057516134
Biobank	rs1057516134
1000 genomes	rs1057516134
hgdp	rs1057516134
ensembl	rs1057516134
geneview	rs1057516134
scholar	rs1057516134
google	rs1057516134
pharmgkb	rs1057516134
gwascentral	rs1057516134
openSNP	rs1057516134
23andMe	rs1057516134
SNPshot	rs1057516134
SNPdbe	rs1057516134
MSV3d	rs1057516134
GWAS Ctlg	rs1057516134

Max Magnitude

5

ClinVar
Risk	rs1057516134(-;-)
Alt	rs1057516134(-;-)
Reference	Rs1057516134(A;A)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11230800delA
CLNSRC
CLNACC	RCV000408847.1,