rs879254981

Orientation

plus

Stabilized

plus

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

Make rs879254981(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11116188

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254981
dbSNP (classic)	rs879254981
ClinGen	rs879254981
ebi	rs879254981
HLI	rs879254981
Exac	rs879254981
Gnomad	rs879254981
Varsome	rs879254981
LitVar	rs879254981
Map	rs879254981
PheGenI	rs879254981
Biobank	rs879254981
1000 genomes	rs879254981
hgdp	rs879254981
ensembl	rs879254981
geneview	rs879254981
scholar	rs879254981
google	rs879254981
pharmgkb	rs879254981
gwascentral	rs879254981
openSNP	rs879254981
23andMe	rs879254981
SNPshot	rs879254981
SNPdbe	rs879254981
MSV3d	rs879254981
GWAS Ctlg	rs879254981

Max Magnitude

5

ClinVar
Risk	rs879254981(T;T)
Alt	rs879254981(T;T)
Reference	Rs879254981(C;C)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11226864C>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238180.1,