rs879254567

Orientation

plus

Stabilized

plus

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

Make rs879254567(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11105441

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254567
dbSNP (classic)	rs879254567
ClinGen	rs879254567
ebi	rs879254567
HLI	rs879254567
Exac	rs879254567
Gnomad	rs879254567
Varsome	rs879254567
LitVar	rs879254567
Map	rs879254567
PheGenI	rs879254567
Biobank	rs879254567
1000 genomes	rs879254567
hgdp	rs879254567
ensembl	rs879254567
geneview	rs879254567
scholar	rs879254567
google	rs879254567
pharmgkb	rs879254567
gwascentral	rs879254567
openSNP	rs879254567
23andMe	rs879254567
SNPshot	rs879254567
SNPdbe	rs879254567
MSV3d	rs879254567
GWAS Ctlg	rs879254567

Max Magnitude

5

ClinVar
Risk	rs879254567(A;A) rs879254567(T;T)
Alt	rs879254567(A;A) rs879254567(T;T)
Reference	Rs879254567(G;G)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216117G>A; NC_000019.9:g.11216117G>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238148.1, RCV000237225.1,