rs879254572

Orientation

plus

Stabilized

plus

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

Make rs879254572(C;C)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11105456

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254572
dbSNP (classic)	rs879254572
ClinGen	rs879254572
ebi	rs879254572
HLI	rs879254572
Exac	rs879254572
Gnomad	rs879254572
Varsome	rs879254572
LitVar	rs879254572
Map	rs879254572
PheGenI	rs879254572
Biobank	rs879254572
1000 genomes	rs879254572
hgdp	rs879254572
ensembl	rs879254572
geneview	rs879254572
scholar	rs879254572
google	rs879254572
pharmgkb	rs879254572
gwascentral	rs879254572
openSNP	rs879254572
23andMe	rs879254572
SNPshot	rs879254572
SNPdbe	rs879254572
MSV3d	rs879254572
GWAS Ctlg	rs879254572

Max Magnitude

5

ClinVar
Risk	rs879254572(C;C)
Alt	rs879254572(C;C)
Reference	Rs879254572(T;T)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216132T>C
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237280.1,