rs879254635

Orientation

plus

Stabilized

plus

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

Make rs879254635(C;C)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11105582

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254635
dbSNP (classic)	rs879254635
ClinGen	rs879254635
ebi	rs879254635
HLI	rs879254635
Exac	rs879254635
Gnomad	rs879254635
Varsome	rs879254635
LitVar	rs879254635
Map	rs879254635
PheGenI	rs879254635
Biobank	rs879254635
1000 genomes	rs879254635
hgdp	rs879254635
ensembl	rs879254635
geneview	rs879254635
scholar	rs879254635
google	rs879254635
pharmgkb	rs879254635
gwascentral	rs879254635
openSNP	rs879254635
23andMe	rs879254635
SNPshot	rs879254635
SNPdbe	rs879254635
MSV3d	rs879254635
GWAS Ctlg	rs879254635

Max Magnitude

5

ClinVar
Risk	rs879254635(C;C)
Alt	rs879254635(C;C)
Reference	Rs879254635(T;T)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216258T>C
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237302.1,