rs879254550

Orientation

plus

Stabilized

plus

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

Make rs879254550(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11105412

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254550
dbSNP (classic)	rs879254550
ClinGen	rs879254550
ebi	rs879254550
HLI	rs879254550
Exac	rs879254550
Gnomad	rs879254550
Varsome	rs879254550
LitVar	rs879254550
Map	rs879254550
PheGenI	rs879254550
Biobank	rs879254550
1000 genomes	rs879254550
hgdp	rs879254550
ensembl	rs879254550
geneview	rs879254550
scholar	rs879254550
google	rs879254550
pharmgkb	rs879254550
gwascentral	rs879254550
openSNP	rs879254550
23andMe	rs879254550
SNPshot	rs879254550
SNPdbe	rs879254550
MSV3d	rs879254550
GWAS Ctlg	rs879254550

Max Magnitude

5

ClinVar
Risk	rs879254550(T;T)
Alt	rs879254550(T;T)
Reference	Rs879254550(A;A)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216088A>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237412.1,