rs201967266

Orientation

plus

Stabilized

plus

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

Make rs201967266(C;G)

Make rs201967266(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

11113596

Gene	LDLR, MIR6886

is a	snp
is	mentioned by
dbSNP	rs201967266
dbSNP (classic)	rs201967266
ClinGen	rs201967266
ebi	rs201967266
HLI	rs201967266
Exac	rs201967266
Gnomad	rs201967266
Varsome	rs201967266
LitVar	rs201967266
Map	rs201967266
PheGenI	rs201967266
Biobank	rs201967266
1000 genomes	rs201967266
hgdp	rs201967266
ensembl	rs201967266
geneview	rs201967266
scholar	rs201967266
google	rs201967266
pharmgkb	rs201967266
gwascentral	rs201967266
openSNP	rs201967266
23andMe	rs201967266
SNPshot	rs201967266
SNPdbe	rs201967266
MSV3d	rs201967266
GWAS Ctlg	rs201967266

Max Magnitude

5

aka c.1420C>T (p.Gln474Ter or Q474X); most common familial hypercholesterolemia mutation in Ashkenazi Jews based on ExAC/gnomAD data

ClinVar
Risk	rs201967266(G;G) rs201967266(T;T)
Alt	rs201967266(G;G) rs201967266(T;T)
Reference	Rs201967266(C;C)
Significance	Pathogenic
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR MIR6886
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11224272C>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237588.1,