rs1057516129

Orientation

plus

Stabilized

plus

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

Make rs1057516129(-;-)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

11102706

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1057516129
dbSNP (classic)	rs1057516129
ClinGen	rs1057516129
ebi	rs1057516129
HLI	rs1057516129
Exac	rs1057516129
Gnomad	rs1057516129
Varsome	rs1057516129
LitVar	rs1057516129
Map	rs1057516129
PheGenI	rs1057516129
Biobank	rs1057516129
1000 genomes	rs1057516129
hgdp	rs1057516129
ensembl	rs1057516129
geneview	rs1057516129
scholar	rs1057516129
google	rs1057516129
pharmgkb	rs1057516129
gwascentral	rs1057516129
openSNP	rs1057516129
23andMe	rs1057516129
SNPshot	rs1057516129
SNPdbe	rs1057516129
MSV3d	rs1057516129
GWAS Ctlg	rs1057516129

Max Magnitude

5

ClinVar
Risk	rs1057516129(-;-)
Alt	rs1057516129(-;-)
Reference	Rs1057516129(G;G)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11213382delG
CLNSRC
CLNACC	RCV000408851.1,