rs1057519653

Orientation

plus

Stabilized

plus

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

Chromosome

19

Position

11102723

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1057519653
dbSNP (classic)	rs1057519653
ClinGen	rs1057519653
ebi	rs1057519653
HLI	rs1057519653
Exac	rs1057519653
Gnomad	rs1057519653
Varsome	rs1057519653
LitVar	rs1057519653
Map	rs1057519653
PheGenI	rs1057519653
Biobank	rs1057519653
1000 genomes	rs1057519653
hgdp	rs1057519653
ensembl	rs1057519653
geneview	rs1057519653
scholar	rs1057519653
google	rs1057519653
pharmgkb	rs1057519653
gwascentral	rs1057519653
openSNP	rs1057519653
23andMe	rs1057519653
SNPshot	rs1057519653
SNPdbe	rs1057519653
MSV3d	rs1057519653
GWAS Ctlg	rs1057519653

Max Magnitude

5

ClinVar
Risk	rs1057519653(CTGCATT;CTGCATT)
Alt	rs1057519653(CTGCATT;CTGCATT)
Reference	Rs1057519653(-;-)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11213393_11213399dupTGCATTC
CLNSRC
CLNACC	RCV000417264.1,