rs1057519654

Orientation

plus

Stabilized

plus

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

Chromosome

19

Position

11105233

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1057519654
dbSNP (classic)	rs1057519654
ClinGen	rs1057519654
ebi	rs1057519654
HLI	rs1057519654
Exac	rs1057519654
Gnomad	rs1057519654
Varsome	rs1057519654
LitVar	rs1057519654
Map	rs1057519654
PheGenI	rs1057519654
Biobank	rs1057519654
1000 genomes	rs1057519654
hgdp	rs1057519654
ensembl	rs1057519654
geneview	rs1057519654
scholar	rs1057519654
google	rs1057519654
pharmgkb	rs1057519654
gwascentral	rs1057519654
openSNP	rs1057519654
23andMe	rs1057519654
SNPshot	rs1057519654
SNPdbe	rs1057519654
MSV3d	rs1057519654
GWAS Ctlg	rs1057519654

Max Magnitude

5

ClinVar
Risk	rs1057519654(A;A)
Alt	rs1057519654(A;A)
Reference	Rs1057519654(C;C)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11215909C>A
CLNSRC
CLNACC	RCV000417289.1,