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rs121908326

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908326(A;A)
Make rs121908326(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position25563142
GeneLDLRAP1
is asnp
is mentioned by
dbSNPrs121908326
dbSNP (classic)rs121908326
ClinGenrs121908326
ebirs121908326
HLIrs121908326
Exacrs121908326
Gnomadrs121908326
Varsomers121908326
LitVarrs121908326
Maprs121908326
PheGenIrs121908326
Biobankrs121908326
1000 genomesrs121908326
hgdprs121908326
ensemblrs121908326
geneviewrs121908326
scholarrs121908326
googlers121908326
pharmgkbrs121908326
gwascentralrs121908326
openSNPrs121908326
23andMers121908326
SNPshotrs121908326
SNPdbers121908326
MSV3drs121908326
GWAS Ctlgrs121908326
Max Magnitude0
OMIM605747
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908326(A;A) rs121908326(G;G)
Alt rs121908326(A;A) rs121908326(G;G)
Reference Rs121908326(C;C)
Significance Pathogenic
Disease Hypercholesterolemia
Variation info
Gene LDLRAP1
CLNDBN Hypercholesterolemia, autosomal recessive
Reversed 0
HGVS NC_000001.10:g.25889633C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005042.2,