rs879255003

Orientation

plus

Stabilized

plus

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

Make rs879255003(C;C)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11116889

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879255003
dbSNP (classic)	rs879255003
ClinGen	rs879255003
ebi	rs879255003
HLI	rs879255003
Exac	rs879255003
Gnomad	rs879255003
Varsome	rs879255003
LitVar	rs879255003
Map	rs879255003
PheGenI	rs879255003
Biobank	rs879255003
1000 genomes	rs879255003
hgdp	rs879255003
ensembl	rs879255003
geneview	rs879255003
scholar	rs879255003
google	rs879255003
pharmgkb	rs879255003
gwascentral	rs879255003
openSNP	rs879255003
23andMe	rs879255003
SNPshot	rs879255003
SNPdbe	rs879255003
MSV3d	rs879255003
GWAS Ctlg	rs879255003

Max Magnitude

5

ClinVar
Risk	rs879255003(C;C) rs879255003(G;G)
Alt	rs879255003(C;C) rs879255003(G;G)
Reference	Rs879255003(A;A)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11227565A>C; NC_000019.9:g.11227565A>G
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238440.1, RCV000237520.1,