rs879255212

Orientation

plus

Stabilized

plus

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

Make rs879255212(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11129561

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879255212
dbSNP (classic)	rs879255212
ClinGen	rs879255212
ebi	rs879255212
HLI	rs879255212
Exac	rs879255212
Gnomad	rs879255212
Varsome	rs879255212
LitVar	rs879255212
Map	rs879255212
PheGenI	rs879255212
Biobank	rs879255212
1000 genomes	rs879255212
hgdp	rs879255212
ensembl	rs879255212
geneview	rs879255212
scholar	rs879255212
google	rs879255212
pharmgkb	rs879255212
gwascentral	rs879255212
openSNP	rs879255212
23andMe	rs879255212
SNPshot	rs879255212
SNPdbe	rs879255212
MSV3d	rs879255212
GWAS Ctlg	rs879255212

Max Magnitude

5

ClinVar
Risk	rs879255212(A;A)
Alt	rs879255212(A;A)
Reference	Rs879255212(G;G)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11240237G>A
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237621.1,