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rs11547917

From SNPedia

Orientationplus
Stabilizedplus
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)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position11107491
GeneLDLR
is asnp
is mentioned by
dbSNPrs11547917
dbSNP (old)rs11547917
ClinGenrs11547917
ebirs11547917
HLIrs11547917
Exacrs11547917
Gnomadrs11547917
Varsomers11547917
Maprs11547917
PheGenIrs11547917
Biobankrs11547917
1000 genomesrs11547917
hgdprs11547917
ensemblrs11547917
gopubmedrs11547917
geneviewrs11547917
scholarrs11547917
googlers11547917
pharmgkbrs11547917
gwascentralrs11547917
openSNPrs11547917
23andMers11547917
23andMe allrs11547917
SNPshotrs11547917
SNPdbers11547917
MSV3drs11547917
GWAS Ctlgrs11547917
Max Magnitude5
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,