rs1057516131

Orientation

plus

Stabilized

plus

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

Make rs1057516131(-;-)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

11120157

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1057516131
dbSNP (classic)	rs1057516131
ClinGen	rs1057516131
ebi	rs1057516131
HLI	rs1057516131
Exac	rs1057516131
Gnomad	rs1057516131
Varsome	rs1057516131
LitVar	rs1057516131
Map	rs1057516131
PheGenI	rs1057516131
Biobank	rs1057516131
1000 genomes	rs1057516131
hgdp	rs1057516131
ensembl	rs1057516131
geneview	rs1057516131
scholar	rs1057516131
google	rs1057516131
pharmgkb	rs1057516131
gwascentral	rs1057516131
openSNP	rs1057516131
23andMe	rs1057516131
SNPshot	rs1057516131
SNPdbe	rs1057516131
MSV3d	rs1057516131
GWAS Ctlg	rs1057516131

Max Magnitude

5

ClinVar
Risk	rs1057516131(-;-)
Alt	rs1057516131(-;-)
Reference	Rs1057516131(C;C)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11230833delC
CLNSRC
CLNACC	RCV000408859.1,