rs1057519664

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;T)	5	Familial Hypercholesterolemia

Chromosome

19

Position

11107498

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1057519664
dbSNP (classic)	rs1057519664
ClinGen	rs1057519664
ebi	rs1057519664
HLI	rs1057519664
Exac	rs1057519664
Gnomad	rs1057519664
Varsome	rs1057519664
LitVar	rs1057519664
Map	rs1057519664
PheGenI	rs1057519664
Biobank	rs1057519664
1000 genomes	rs1057519664
hgdp	rs1057519664
ensembl	rs1057519664
geneview	rs1057519664
scholar	rs1057519664
google	rs1057519664
pharmgkb	rs1057519664
gwascentral	rs1057519664
openSNP	rs1057519664
23andMe	rs1057519664
SNPshot	rs1057519664
SNPdbe	rs1057519664
MSV3d	rs1057519664
GWAS Ctlg	rs1057519664

Max Magnitude

5

ClinVar
Risk	rs1057519664(T;T)
Alt	rs1057519664(T;T)
Reference	Rs1057519664(A;A)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11218174A>T
CLNSRC
CLNACC	RCV000417243.1,