rs1057519662

Orientation

plus

Stabilized

plus

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

Chromosome

19

Position

11105588

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1057519662
dbSNP (classic)	rs1057519662
ClinGen	rs1057519662
ebi	rs1057519662
HLI	rs1057519662
Exac	rs1057519662
Gnomad	rs1057519662
Varsome	rs1057519662
LitVar	rs1057519662
Map	rs1057519662
PheGenI	rs1057519662
Biobank	rs1057519662
1000 genomes	rs1057519662
hgdp	rs1057519662
ensembl	rs1057519662
geneview	rs1057519662
scholar	rs1057519662
google	rs1057519662
pharmgkb	rs1057519662
gwascentral	rs1057519662
openSNP	rs1057519662
23andMe	rs1057519662
SNPshot	rs1057519662
SNPdbe	rs1057519662
MSV3d	rs1057519662
GWAS Ctlg	rs1057519662

Max Magnitude

5

ClinVar
Risk	rs1057519662(GCAAGGACAAATCTGAC;GCAAGGACAAATCTGAC)
Alt	rs1057519662(GCAAGGACAAATCTGAC;GCAAGGACAAATCTGAC)
Reference	Rs1057519662(-;-)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216248_11216264dup17
CLNSRC
CLNACC	RCV000417272.1,