rs1057516130

Orientation

plus

Stabilized

plus

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

Make rs1057516130(-;-)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

11107479

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1057516130
dbSNP (classic)	rs1057516130
ClinGen	rs1057516130
ebi	rs1057516130
HLI	rs1057516130
Exac	rs1057516130
Gnomad	rs1057516130
Varsome	rs1057516130
LitVar	rs1057516130
Map	rs1057516130
PheGenI	rs1057516130
Biobank	rs1057516130
1000 genomes	rs1057516130
hgdp	rs1057516130
ensembl	rs1057516130
geneview	rs1057516130
scholar	rs1057516130
google	rs1057516130
pharmgkb	rs1057516130
gwascentral	rs1057516130
openSNP	rs1057516130
23andMe	rs1057516130
SNPshot	rs1057516130
SNPdbe	rs1057516130
MSV3d	rs1057516130
GWAS Ctlg	rs1057516130

Max Magnitude

5

ClinVar
Risk	rs1057516130(-;-)
Alt	rs1057516130(-;-)
Reference	Rs1057516130(G;G)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11218155delG
CLNSRC
CLNACC	RCV000408896.1,