rs753248521

Orientation

plus

Stabilized

plus

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

Make rs753248521(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11111523

Gene	LDLR, MIR6886

is a	snp
is	mentioned by
dbSNP	rs753248521
dbSNP (classic)	rs753248521
ClinGen	rs753248521
ebi	rs753248521
HLI	rs753248521
Exac	rs753248521
Gnomad	rs753248521
Varsome	rs753248521
LitVar	rs753248521
Map	rs753248521
PheGenI	rs753248521
Biobank	rs753248521
1000 genomes	rs753248521
hgdp	rs753248521
ensembl	rs753248521
geneview	rs753248521
scholar	rs753248521
google	rs753248521
pharmgkb	rs753248521
gwascentral	rs753248521
openSNP	rs753248521
23andMe	rs753248521
SNPshot	rs753248521
SNPdbe	rs753248521
MSV3d	rs753248521
GWAS Ctlg	rs753248521

Max Magnitude

5

ClinVar
Risk	rs753248521(G;G)
Alt	rs753248521(G;G)
Reference	Rs753248521(A;A)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR MIR6886
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11222199A>G
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238289.1,