rs879254978

Orientation

plus

Stabilized

plus

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

Make rs879254978(C;C)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11116171

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254978
dbSNP (classic)	rs879254978
ClinGen	rs879254978
ebi	rs879254978
HLI	rs879254978
Exac	rs879254978
Gnomad	rs879254978
Varsome	rs879254978
LitVar	rs879254978
Map	rs879254978
PheGenI	rs879254978
Biobank	rs879254978
1000 genomes	rs879254978
hgdp	rs879254978
ensembl	rs879254978
geneview	rs879254978
scholar	rs879254978
google	rs879254978
pharmgkb	rs879254978
gwascentral	rs879254978
openSNP	rs879254978
23andMe	rs879254978
SNPshot	rs879254978
SNPdbe	rs879254978
MSV3d	rs879254978
GWAS Ctlg	rs879254978

Max Magnitude

5

ClinVar
Risk	rs879254978(C;C)
Alt	rs879254978(C;C)
Reference	Rs879254978(T;T)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11226847T>C
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238213.1,