rs879254943

Orientation

plus

Stabilized

plus

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

Make rs879254943(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

19

Position

11113750

Gene	LDLR, MIR6886

is a	snp
is	mentioned by
dbSNP	rs879254943
dbSNP (classic)	rs879254943
ClinGen	rs879254943
ebi	rs879254943
HLI	rs879254943
Exac	rs879254943
Gnomad	rs879254943
Varsome	rs879254943
LitVar	rs879254943
Map	rs879254943
PheGenI	rs879254943
Biobank	rs879254943
1000 genomes	rs879254943
hgdp	rs879254943
ensembl	rs879254943
geneview	rs879254943
scholar	rs879254943
google	rs879254943
pharmgkb	rs879254943
gwascentral	rs879254943
openSNP	rs879254943
23andMe	rs879254943
SNPshot	rs879254943
SNPdbe	rs879254943
MSV3d	rs879254943
GWAS Ctlg	rs879254943

Max Magnitude

5

ClinVar
Risk	rs879254943(T;T)
Alt	rs879254943(T;T)
Reference	Rs879254943(A;A)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR MIR6886
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11224426A>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000238555.1,