rs879254849

Orientation

plus

Stabilized

plus

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

Make rs879254849(C;C)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11113359

Gene	LDLR, MIR6886

is a	snp
is	mentioned by
dbSNP	rs879254849
dbSNP (classic)	rs879254849
ClinGen	rs879254849
ebi	rs879254849
HLI	rs879254849
Exac	rs879254849
Gnomad	rs879254849
Varsome	rs879254849
LitVar	rs879254849
Map	rs879254849
PheGenI	rs879254849
Biobank	rs879254849
1000 genomes	rs879254849
hgdp	rs879254849
ensembl	rs879254849
geneview	rs879254849
scholar	rs879254849
google	rs879254849
pharmgkb	rs879254849
gwascentral	rs879254849
openSNP	rs879254849
23andMe	rs879254849
SNPshot	rs879254849
SNPdbe	rs879254849
MSV3d	rs879254849
GWAS Ctlg	rs879254849

Max Magnitude

5

ClinVar
Risk	rs879254849(C;C)
Alt	rs879254849(C;C)
Reference	Rs879254849(T;T)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR MIR6886
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11224035T>C
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238040.1,