rs1057519656

Orientation

plus

Stabilized

plus

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

Make rs1057519656(-;-)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

11105570

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1057519656
dbSNP (classic)	rs1057519656
ClinGen	rs1057519656
ebi	rs1057519656
HLI	rs1057519656
Exac	rs1057519656
Gnomad	rs1057519656
Varsome	rs1057519656
LitVar	rs1057519656
Map	rs1057519656
PheGenI	rs1057519656
Biobank	rs1057519656
1000 genomes	rs1057519656
hgdp	rs1057519656
ensembl	rs1057519656
geneview	rs1057519656
scholar	rs1057519656
google	rs1057519656
pharmgkb	rs1057519656
gwascentral	rs1057519656
openSNP	rs1057519656
23andMe	rs1057519656
SNPshot	rs1057519656
SNPdbe	rs1057519656
MSV3d	rs1057519656
GWAS Ctlg	rs1057519656

Max Magnitude

5

ClinVar
Risk	rs1057519656(-;-)
Alt	rs1057519656(-;-)
Reference	Rs1057519656(GACTGCAAGGACAAATCT;GACTGCAAGGACAAATCT)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216246_11216263del18
CLNSRC
CLNACC	RCV000417271.1,