rs879254842

Orientation

plus

Stabilized

plus

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

Make rs879254842(C;C)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11113326

Gene	LDLR, MIR6886

is a	snp
is	mentioned by
dbSNP	rs879254842
dbSNP (classic)	rs879254842
ClinGen	rs879254842
ebi	rs879254842
HLI	rs879254842
Exac	rs879254842
Gnomad	rs879254842
Varsome	rs879254842
LitVar	rs879254842
Map	rs879254842
PheGenI	rs879254842
Biobank	rs879254842
1000 genomes	rs879254842
hgdp	rs879254842
ensembl	rs879254842
geneview	rs879254842
scholar	rs879254842
google	rs879254842
pharmgkb	rs879254842
gwascentral	rs879254842
openSNP	rs879254842
23andMe	rs879254842
SNPshot	rs879254842
SNPdbe	rs879254842
MSV3d	rs879254842
GWAS Ctlg	rs879254842

Max Magnitude

5

ClinVar
Risk	rs879254842(C;C)
Alt	rs879254842(C;C)
Reference	Rs879254842(T;T)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR MIR6886
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11224002T>C
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238498.1,