rs730880130

Orientation

plus

Stabilized

plus

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

Make rs730880130(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

11113644

Gene	LDLR, MIR6886

is a	snp
is	mentioned by
dbSNP	rs730880130
dbSNP (classic)	rs730880130
ClinGen	rs730880130
ebi	rs730880130
HLI	rs730880130
Exac	rs730880130
Gnomad	rs730880130
Varsome	rs730880130
LitVar	rs730880130
Map	rs730880130
PheGenI	rs730880130
Biobank	rs730880130
1000 genomes	rs730880130
hgdp	rs730880130
ensembl	rs730880130
geneview	rs730880130
scholar	rs730880130
google	rs730880130
pharmgkb	rs730880130
gwascentral	rs730880130
openSNP	rs730880130
23andMe	rs730880130
SNPshot	rs730880130
SNPdbe	rs730880130
MSV3d	rs730880130
GWAS Ctlg	rs730880130

Max Magnitude

5

aka c.1468T>C, p.Trp490Arg or W490R

reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease

ClinVar
Risk	rs730880130(C;C) rs730880130(G;G)
Alt	rs730880130(C;C) rs730880130(G;G)
Reference	Rs730880130(T;T)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR MIR6886
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11224320T>C; NC_000019.9:g.11224320T>G
CLNSRC	LDLR @ LOVD
CLNACC	RCV000157290.3, RCV000237767.1,