rs1060499933

Orientation

plus

Stabilized

plus

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

Chromosome

19

Position

11110692

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs1060499933
dbSNP (classic)	rs1060499933
ClinGen	rs1060499933
ebi	rs1060499933
HLI	rs1060499933
Exac	rs1060499933
Gnomad	rs1060499933
Varsome	rs1060499933
LitVar	rs1060499933
Map	rs1060499933
PheGenI	rs1060499933
Biobank	rs1060499933
1000 genomes	rs1060499933
hgdp	rs1060499933
ensembl	rs1060499933
geneview	rs1060499933
scholar	rs1060499933
google	rs1060499933
pharmgkb	rs1060499933
gwascentral	rs1060499933
openSNP	rs1060499933
23andMe	rs1060499933
SNPshot	rs1060499933
SNPdbe	rs1060499933
MSV3d	rs1060499933
GWAS Ctlg	rs1060499933

Max Magnitude

5

ClinVar
Risk	rs1060499933(A;A)
Alt	rs1060499933(A;A)
Reference	Rs1060499933(C;C)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11221368C>A
CLNSRC
CLNACC	RCV000455675.1,