rs1057519665

Orientation

plus

Stabilized

plus

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

Chromosome

19

Position

11107514

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1057519665
dbSNP (classic)	rs1057519665
ClinGen	rs1057519665
ebi	rs1057519665
HLI	rs1057519665
Exac	rs1057519665
Gnomad	rs1057519665
Varsome	rs1057519665
LitVar	rs1057519665
Map	rs1057519665
PheGenI	rs1057519665
Biobank	rs1057519665
1000 genomes	rs1057519665
hgdp	rs1057519665
ensembl	rs1057519665
geneview	rs1057519665
scholar	rs1057519665
google	rs1057519665
pharmgkb	rs1057519665
gwascentral	rs1057519665
openSNP	rs1057519665
23andMe	rs1057519665
SNPshot	rs1057519665
SNPdbe	rs1057519665
MSV3d	rs1057519665
GWAS Ctlg	rs1057519665

Max Magnitude

5

ClinVar
Risk	rs1057519665(-;-)
Alt	rs1057519665(-;-)
Reference	Rs1057519665(GTGCGGTGAGTCTCG;GTGCGGTGAGTCTCG)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11218190_11218204delGGTGAGTCTCGGTGC
CLNSRC
CLNACC	RCV000417307.1,