rs1057516127

Orientation

plus

Stabilized

plus

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

Make rs1057516127(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

11123200

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1057516127
dbSNP (classic)	rs1057516127
ClinGen	rs1057516127
ebi	rs1057516127
HLI	rs1057516127
Exac	rs1057516127
Gnomad	rs1057516127
Varsome	rs1057516127
LitVar	rs1057516127
Map	rs1057516127
PheGenI	rs1057516127
Biobank	rs1057516127
1000 genomes	rs1057516127
hgdp	rs1057516127
ensembl	rs1057516127
geneview	rs1057516127
scholar	rs1057516127
google	rs1057516127
pharmgkb	rs1057516127
gwascentral	rs1057516127
openSNP	rs1057516127
23andMe	rs1057516127
SNPshot	rs1057516127
SNPdbe	rs1057516127
MSV3d	rs1057516127
GWAS Ctlg	rs1057516127

Max Magnitude

5

ClinVar
Risk	rs1057516127(T;T)
Alt	rs1057516127(T;T)
Reference	Rs1057516127(G;G)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11233876G>T
CLNSRC
CLNACC	RCV000408760.1,