rs1057516133

Orientation

plus

Stabilized

plus

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

Make rs1057516133(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

11105276

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1057516133
dbSNP (classic)	rs1057516133
ClinGen	rs1057516133
ebi	rs1057516133
HLI	rs1057516133
Exac	rs1057516133
Gnomad	rs1057516133
Varsome	rs1057516133
LitVar	rs1057516133
Map	rs1057516133
PheGenI	rs1057516133
Biobank	rs1057516133
1000 genomes	rs1057516133
hgdp	rs1057516133
ensembl	rs1057516133
geneview	rs1057516133
scholar	rs1057516133
google	rs1057516133
pharmgkb	rs1057516133
gwascentral	rs1057516133
openSNP	rs1057516133
23andMe	rs1057516133
SNPshot	rs1057516133
SNPdbe	rs1057516133
MSV3d	rs1057516133
GWAS Ctlg	rs1057516133

Max Magnitude

5

ClinVar
Risk	rs1057516133(C;C)
Alt	rs1057516133(C;C)
Reference	Rs1057516133(-;-)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11215952dupC
CLNSRC
CLNACC	RCV000408817.1,