rs879254558

Orientation

plus

Stabilized

plus

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

Make rs879254558(C;C)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11105423

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254558
dbSNP (classic)	rs879254558
ClinGen	rs879254558
ebi	rs879254558
HLI	rs879254558
Exac	rs879254558
Gnomad	rs879254558
Varsome	rs879254558
LitVar	rs879254558
Map	rs879254558
PheGenI	rs879254558
Biobank	rs879254558
1000 genomes	rs879254558
hgdp	rs879254558
ensembl	rs879254558
geneview	rs879254558
scholar	rs879254558
google	rs879254558
pharmgkb	rs879254558
gwascentral	rs879254558
openSNP	rs879254558
23andMe	rs879254558
SNPshot	rs879254558
SNPdbe	rs879254558
MSV3d	rs879254558
GWAS Ctlg	rs879254558

Max Magnitude

5

ClinVar
Risk	rs879254558(C;C) rs879254558(G;G)
Alt	rs879254558(C;C) rs879254558(G;G)
Reference	Rs879254558(T;T)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216099T>C; NC_000019.9:g.11216099T>G
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237161.2, RCV000237747.1,