rs879254611

Orientation

plus

Stabilized

plus

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

Make rs879254611(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11105553

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254611
dbSNP (classic)	rs879254611
ClinGen	rs879254611
ebi	rs879254611
HLI	rs879254611
Exac	rs879254611
Gnomad	rs879254611
Varsome	rs879254611
LitVar	rs879254611
Map	rs879254611
PheGenI	rs879254611
Biobank	rs879254611
1000 genomes	rs879254611
hgdp	rs879254611
ensembl	rs879254611
geneview	rs879254611
scholar	rs879254611
google	rs879254611
pharmgkb	rs879254611
gwascentral	rs879254611
openSNP	rs879254611
23andMe	rs879254611
SNPshot	rs879254611
SNPdbe	rs879254611
MSV3d	rs879254611
GWAS Ctlg	rs879254611

Max Magnitude

5

ClinVar
Risk	rs879254611(A;A) rs879254611(T;T)
Alt	rs879254611(A;A) rs879254611(T;T)
Reference	Rs879254611(G;G)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216229G>A; NC_000019.9:g.11216229G>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237153.1, RCV000237519.1,