rs1057519652

Orientation

plus

Stabilized

plus

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

Chromosome

19

Position

11102675

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1057519652
dbSNP (classic)	rs1057519652
ClinGen	rs1057519652
ebi	rs1057519652
HLI	rs1057519652
Exac	rs1057519652
Gnomad	rs1057519652
Varsome	rs1057519652
LitVar	rs1057519652
Map	rs1057519652
PheGenI	rs1057519652
Biobank	rs1057519652
1000 genomes	rs1057519652
hgdp	rs1057519652
ensembl	rs1057519652
geneview	rs1057519652
scholar	rs1057519652
google	rs1057519652
pharmgkb	rs1057519652
gwascentral	rs1057519652
openSNP	rs1057519652
23andMe	rs1057519652
SNPshot	rs1057519652
SNPdbe	rs1057519652
MSV3d	rs1057519652
GWAS Ctlg	rs1057519652

Max Magnitude

5

ClinVar
Risk	rs1057519652(C;C)
Alt	rs1057519652(C;C)
Reference	Rs1057519652(T;T)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11213351T>C
CLNSRC
CLNACC	RCV000417354.1,