rs879254536

Orientation

plus

Stabilized

plus

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

Make rs879254536(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11105370

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254536
dbSNP (classic)	rs879254536
ClinGen	rs879254536
ebi	rs879254536
HLI	rs879254536
Exac	rs879254536
Gnomad	rs879254536
Varsome	rs879254536
LitVar	rs879254536
Map	rs879254536
PheGenI	rs879254536
Biobank	rs879254536
1000 genomes	rs879254536
hgdp	rs879254536
ensembl	rs879254536
geneview	rs879254536
scholar	rs879254536
google	rs879254536
pharmgkb	rs879254536
gwascentral	rs879254536
openSNP	rs879254536
23andMe	rs879254536
SNPshot	rs879254536
SNPdbe	rs879254536
MSV3d	rs879254536
GWAS Ctlg	rs879254536

Max Magnitude

5

ClinVar
Risk	rs879254536(A;A) rs879254536(T;T)
Alt	rs879254536(A;A) rs879254536(T;T)
Reference	Rs879254536(G;G)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216046G>A; NC_000019.9:g.11216046G>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238238.1, RCV000237311.1,