rs11547917

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;C)	5	Familial Hypercholesterolemia
(C;C)	0	common/normal
(C;G)	5	Familial Hypercholesterolemia
(C;T)	5	Familial Hypercholesterolemia

Make rs11547917(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

11107491

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs11547917
dbSNP (classic)	rs11547917
ClinGen	rs11547917
ebi	rs11547917
HLI	rs11547917
Exac	rs11547917
Gnomad	rs11547917
Varsome	rs11547917
LitVar	rs11547917
Map	rs11547917
PheGenI	rs11547917
Biobank	rs11547917
1000 genomes	rs11547917
hgdp	rs11547917
ensembl	rs11547917
geneview	rs11547917
scholar	rs11547917
google	rs11547917
pharmgkb	rs11547917
gwascentral	rs11547917
openSNP	rs11547917
23andMe	rs11547917
SNPshot	rs11547917
SNPdbe	rs11547917
MSV3d	rs11547917
GWAS Ctlg	rs11547917

Max Magnitude

5

ClinVar
Risk	rs11547917(A;A) rs11547917(G;G) rs11547917(T;T)
Alt	rs11547917(A;A) rs11547917(G;G) rs11547917(T;T)
Reference	Rs11547917(C;C)
Significance	Other
Disease	Familial hypercholesterolemia
Variation	info
Gene	LDLR
CLNDBN	Familial hypercholesterolemia
Reversed	0
HGVS	NC_000019.9:g.11218167C>A; NC_000019.9:g.11218167C>G; NC_000019.9:g.11218167C>T
CLNSRC	LDLR @ LOVD
CLNACC	RCV000237264.1, RCV000237768.1, RCV000211683.3,