rs879255056

Orientation

plus

Stabilized

plus

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

Make rs879255056(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11120105

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879255056
dbSNP (classic)	rs879255056
ClinGen	rs879255056
ebi	rs879255056
HLI	rs879255056
Exac	rs879255056
Gnomad	rs879255056
Varsome	rs879255056
LitVar	rs879255056
Map	rs879255056
PheGenI	rs879255056
Biobank	rs879255056
1000 genomes	rs879255056
hgdp	rs879255056
ensembl	rs879255056
geneview	rs879255056
scholar	rs879255056
google	rs879255056
pharmgkb	rs879255056
gwascentral	rs879255056
openSNP	rs879255056
23andMe	rs879255056
SNPshot	rs879255056
SNPdbe	rs879255056
MSV3d	rs879255056
GWAS Ctlg	rs879255056

Max Magnitude

5

ClinVar
Risk	rs879255056(A;A)
Alt	rs879255056(A;A)
Reference	Rs879255056(G;G)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11230781G>A
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237737.1,