rs879254578

Orientation

plus

Stabilized

plus

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

Make rs879254578(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11105477

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254578
dbSNP (classic)	rs879254578
ClinGen	rs879254578
ebi	rs879254578
HLI	rs879254578
Exac	rs879254578
Gnomad	rs879254578
Varsome	rs879254578
LitVar	rs879254578
Map	rs879254578
PheGenI	rs879254578
Biobank	rs879254578
1000 genomes	rs879254578
hgdp	rs879254578
ensembl	rs879254578
geneview	rs879254578
scholar	rs879254578
google	rs879254578
pharmgkb	rs879254578
gwascentral	rs879254578
openSNP	rs879254578
23andMe	rs879254578
SNPshot	rs879254578
SNPdbe	rs879254578
MSV3d	rs879254578
GWAS Ctlg	rs879254578

Max Magnitude

5

ClinVar
Risk	rs879254578(T;T)
Alt	rs879254578(T;T)
Reference	Rs879254578(C;C)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216153C>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237910.1,