rs1057519659

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;AATCTGACGA)	5	Familial Hypercholesterolemia
(AAATCTGACG;AAATCTGACG)	0	common in clinvar
(AATCTGACGA;AATCTGACGA)	0	common/normal

Chromosome

19

Position

11105580

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1057519659
dbSNP (classic)	rs1057519659
ClinGen	rs1057519659
ebi	rs1057519659
HLI	rs1057519659
Exac	rs1057519659
Gnomad	rs1057519659
Varsome	rs1057519659
LitVar	rs1057519659
Map	rs1057519659
PheGenI	rs1057519659
Biobank	rs1057519659
1000 genomes	rs1057519659
hgdp	rs1057519659
ensembl	rs1057519659
geneview	rs1057519659
scholar	rs1057519659
google	rs1057519659
pharmgkb	rs1057519659
gwascentral	rs1057519659
openSNP	rs1057519659
23andMe	rs1057519659
SNPshot	rs1057519659
SNPdbe	rs1057519659
MSV3d	rs1057519659
GWAS Ctlg	rs1057519659

Max Magnitude

5

ClinVar
Risk	rs1057519659(-;-)
Alt	rs1057519659(-;-)
Reference	Rs1057519659(AAATCTGACG;AAATCTGACG)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216256_11216265delAATCTGACGA
CLNSRC
CLNACC	RCV000417283.1,