rs879254525

Orientation

plus

Stabilized

plus

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

Make rs879254525(C;C)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11105348

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254525
dbSNP (classic)	rs879254525
ClinGen	rs879254525
ebi	rs879254525
HLI	rs879254525
Exac	rs879254525
Gnomad	rs879254525
Varsome	rs879254525
LitVar	rs879254525
Map	rs879254525
PheGenI	rs879254525
Biobank	rs879254525
1000 genomes	rs879254525
hgdp	rs879254525
ensembl	rs879254525
geneview	rs879254525
scholar	rs879254525
google	rs879254525
pharmgkb	rs879254525
gwascentral	rs879254525
openSNP	rs879254525
23andMe	rs879254525
SNPshot	rs879254525
SNPdbe	rs879254525
MSV3d	rs879254525
GWAS Ctlg	rs879254525

Max Magnitude

5

ClinVar
Risk	rs879254525(C;C)
Alt	rs879254525(C;C)
Reference	Rs879254525(T;T)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216024T>C
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238036.1,