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rs551747280

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs551747280(A;A)
Make rs551747280(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11100237
GeneLDLR
is asnp
is mentioned by
dbSNPrs551747280
ebirs551747280
HLIrs551747280
Exacrs551747280
Varsomers551747280
Maprs551747280
PheGenIrs551747280
hapmaprs551747280
1000 genomesrs551747280
hgdprs551747280
ensemblrs551747280
gopubmedrs551747280
geneviewrs551747280
scholarrs551747280
googlers551747280
pharmgkbrs551747280
gwascentralrs551747280
openSNPrs551747280
23andMers551747280
23andMe allrs551747280
SNP Nexus

SNPshotrs551747280
SNPdbers551747280
MSV3drs551747280
GWAS Ctlgrs551747280
Max Magnitude0
ClinVar
Risk rs551747280(A;A)
Alt rs551747280(A;A)
Reference rs551747280(G;G)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11210913G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000211620.2,