rs879254566

Orientation

plus

Stabilized

plus

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

Make rs879254566(G;G)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11105440

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254566
dbSNP (classic)	rs879254566
ClinGen	rs879254566
ebi	rs879254566
HLI	rs879254566
Exac	rs879254566
Gnomad	rs879254566
Varsome	rs879254566
LitVar	rs879254566
Map	rs879254566
PheGenI	rs879254566
Biobank	rs879254566
1000 genomes	rs879254566
hgdp	rs879254566
ensembl	rs879254566
geneview	rs879254566
scholar	rs879254566
google	rs879254566
pharmgkb	rs879254566
gwascentral	rs879254566
openSNP	rs879254566
23andMe	rs879254566
SNPshot	rs879254566
SNPdbe	rs879254566
MSV3d	rs879254566
GWAS Ctlg	rs879254566

Max Magnitude

5

ClinVar
Risk	rs879254566(G;G)
Alt	rs879254566(G;G)
Reference	Rs879254566(T;T)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11216116T>G
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237578.1,