rs879254547

Orientation

plus

Stabilized

plus

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

Make rs879254547(C;C)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11105405

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254547
dbSNP (classic)	rs879254547
ClinGen	rs879254547
ebi	rs879254547
HLI	rs879254547
Exac	rs879254547
Gnomad	rs879254547
Varsome	rs879254547
LitVar	rs879254547
Map	rs879254547
PheGenI	rs879254547
Biobank	rs879254547
1000 genomes	rs879254547
hgdp	rs879254547
ensembl	rs879254547
geneview	rs879254547
scholar	rs879254547
google	rs879254547
pharmgkb	rs879254547
gwascentral	rs879254547
openSNP	rs879254547
23andMe	rs879254547
SNPshot	rs879254547
SNPdbe	rs879254547
MSV3d	rs879254547
GWAS Ctlg	rs879254547

Max Magnitude

5

ClinVar
Risk	rs879254547(C;C)
Alt	rs879254547(C;C)
Reference	Rs879254547(T;T)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216081T>C
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237110.1,