rs1057516135

Orientation

plus

Stabilized

plus

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

Make rs1057516135(-;-)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

11105373

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1057516135
dbSNP (classic)	rs1057516135
ClinGen	rs1057516135
ebi	rs1057516135
HLI	rs1057516135
Exac	rs1057516135
Gnomad	rs1057516135
Varsome	rs1057516135
LitVar	rs1057516135
Map	rs1057516135
PheGenI	rs1057516135
Biobank	rs1057516135
1000 genomes	rs1057516135
hgdp	rs1057516135
ensembl	rs1057516135
geneview	rs1057516135
scholar	rs1057516135
google	rs1057516135
pharmgkb	rs1057516135
gwascentral	rs1057516135
openSNP	rs1057516135
23andMe	rs1057516135
SNPshot	rs1057516135
SNPdbe	rs1057516135
MSV3d	rs1057516135
GWAS Ctlg	rs1057516135

Max Magnitude

5

ClinVar
Risk	rs1057516135(-;-)
Alt	rs1057516135(-;-)
Reference	Rs1057516135(A;A)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216049delA
CLNSRC
CLNACC	RCV000408765.1,