rs879254760

Orientation

plus

Stabilized

plus

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

Make rs879254760(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11110739

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs879254760
dbSNP (classic)	rs879254760
ClinGen	rs879254760
ebi	rs879254760
HLI	rs879254760
Exac	rs879254760
Gnomad	rs879254760
Varsome	rs879254760
LitVar	rs879254760
Map	rs879254760
PheGenI	rs879254760
Biobank	rs879254760
1000 genomes	rs879254760
hgdp	rs879254760
ensembl	rs879254760
geneview	rs879254760
scholar	rs879254760
google	rs879254760
pharmgkb	rs879254760
gwascentral	rs879254760
openSNP	rs879254760
23andMe	rs879254760
SNPshot	rs879254760
SNPdbe	rs879254760
MSV3d	rs879254760
GWAS Ctlg	rs879254760

Max Magnitude

5

ClinVar
Risk	rs879254760(A;A)
Alt	rs879254760(A;A)
Reference	Rs879254760(G;G)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11221415G>A
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237525.1,