rs879254725

Orientation

plus

Stabilized

plus

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

Make rs879254725(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11107508

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254725
dbSNP (classic)	rs879254725
ClinGen	rs879254725
ebi	rs879254725
HLI	rs879254725
Exac	rs879254725
Gnomad	rs879254725
Varsome	rs879254725
LitVar	rs879254725
Map	rs879254725
PheGenI	rs879254725
Biobank	rs879254725
1000 genomes	rs879254725
hgdp	rs879254725
ensembl	rs879254725
geneview	rs879254725
scholar	rs879254725
google	rs879254725
pharmgkb	rs879254725
gwascentral	rs879254725
openSNP	rs879254725
23andMe	rs879254725
SNPshot	rs879254725
SNPdbe	rs879254725
MSV3d	rs879254725
GWAS Ctlg	rs879254725

Max Magnitude

5

ClinVar
Risk	rs879254725(T;T)
Alt	rs879254725(T;T)
Reference	Rs879254725(G;G)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11218184G>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238006.1,