rs879255059

Orientation

plus

Stabilized

plus

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

Make rs879255059(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11120110

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879255059
dbSNP (classic)	rs879255059
ClinGen	rs879255059
ebi	rs879255059
HLI	rs879255059
Exac	rs879255059
Gnomad	rs879255059
Varsome	rs879255059
LitVar	rs879255059
Map	rs879255059
PheGenI	rs879255059
Biobank	rs879255059
1000 genomes	rs879255059
hgdp	rs879255059
ensembl	rs879255059
geneview	rs879255059
scholar	rs879255059
google	rs879255059
pharmgkb	rs879255059
gwascentral	rs879255059
openSNP	rs879255059
23andMe	rs879255059
SNPshot	rs879255059
SNPdbe	rs879255059
MSV3d	rs879255059
GWAS Ctlg	rs879255059

Max Magnitude

5

ClinVar
Risk	rs879255059(A;A)
Alt	rs879255059(A;A)
Reference	Rs879255059(G;G)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11230786G>A
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238037.1,