rs755154048

Orientation

plus

Stabilized

plus

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

Make rs755154048(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11113705

Gene	LDLR, MIR6886

is a	snp
is	mentioned by
dbSNP	rs755154048
dbSNP (classic)	rs755154048
ClinGen	rs755154048
ebi	rs755154048
HLI	rs755154048
Exac	rs755154048
Gnomad	rs755154048
Varsome	rs755154048
LitVar	rs755154048
Map	rs755154048
PheGenI	rs755154048
Biobank	rs755154048
1000 genomes	rs755154048
hgdp	rs755154048
ensembl	rs755154048
geneview	rs755154048
scholar	rs755154048
google	rs755154048
pharmgkb	rs755154048
gwascentral	rs755154048
openSNP	rs755154048
23andMe	rs755154048
SNPshot	rs755154048
SNPdbe	rs755154048
MSV3d	rs755154048
GWAS Ctlg	rs755154048

Max Magnitude

5

ClinVar
Risk	rs755154048(T;T)
Alt	rs755154048(T;T)
Reference	Rs755154048(C;C)
Significance	Probable-Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR MIR6886
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11224381C>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237591.1,