rs879254797

Orientation

plus

Stabilized

plus

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

Make rs879254797(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11111571

Gene	LDLR, MIR6886

is a	snp
is	mentioned by
dbSNP	rs879254797
dbSNP (classic)	rs879254797
ClinGen	rs879254797
ebi	rs879254797
HLI	rs879254797
Exac	rs879254797
Gnomad	rs879254797
Varsome	rs879254797
LitVar	rs879254797
Map	rs879254797
PheGenI	rs879254797
Biobank	rs879254797
1000 genomes	rs879254797
hgdp	rs879254797
ensembl	rs879254797
geneview	rs879254797
scholar	rs879254797
google	rs879254797
pharmgkb	rs879254797
gwascentral	rs879254797
openSNP	rs879254797
23andMe	rs879254797
SNPshot	rs879254797
SNPdbe	rs879254797
MSV3d	rs879254797
GWAS Ctlg	rs879254797

Max Magnitude

5

ClinVar
Risk	rs879254797(A;A) rs879254797(T;T)
Alt	rs879254797(A;A) rs879254797(T;T)
Reference	Rs879254797(G;G)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR MIR6886
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11222247G>A; NC_000019.9:g.11222247G>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237895.1, RCV000238254.1,