rs879254532

Orientation

plus

Stabilized

plus

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

Make rs879254532(G;G)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11105363

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254532
dbSNP (classic)	rs879254532
ClinGen	rs879254532
ebi	rs879254532
HLI	rs879254532
Exac	rs879254532
Gnomad	rs879254532
Varsome	rs879254532
LitVar	rs879254532
Map	rs879254532
PheGenI	rs879254532
Biobank	rs879254532
1000 genomes	rs879254532
hgdp	rs879254532
ensembl	rs879254532
geneview	rs879254532
scholar	rs879254532
google	rs879254532
pharmgkb	rs879254532
gwascentral	rs879254532
openSNP	rs879254532
23andMe	rs879254532
SNPshot	rs879254532
SNPdbe	rs879254532
MSV3d	rs879254532
GWAS Ctlg	rs879254532

Max Magnitude

5

ClinVar
Risk	rs879254532(G;G)
Alt	rs879254532(G;G)
Reference	Rs879254532(T;T)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216039T>G
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237243.1,