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rs121908324

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908324(A;A)
Make rs121908324(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position25543763
GeneLDLRAP1
is asnp
is mentioned by
dbSNPrs121908324
dbSNP (classic)rs121908324
ClinGenrs121908324
ebirs121908324
HLIrs121908324
Exacrs121908324
Gnomadrs121908324
Varsomers121908324
LitVarrs121908324
Maprs121908324
PheGenIrs121908324
Biobankrs121908324
1000 genomesrs121908324
hgdprs121908324
ensemblrs121908324
geneviewrs121908324
scholarrs121908324
googlers121908324
pharmgkbrs121908324
gwascentralrs121908324
openSNPrs121908324
23andMers121908324
SNPshotrs121908324
SNPdbers121908324
MSV3drs121908324
GWAS Ctlgrs121908324
Max Magnitude0
OMIM605747
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908324(A;A) rs121908324(C;C) rs121908324(T;T)
Alt rs121908324(A;A) rs121908324(C;C) rs121908324(T;T)
Reference Rs121908324(G;G)
Significance Pathogenic
Disease Hypercholesterolemia
Variation info
Gene LDLRAP1
CLNDBN Hypercholesterolemia, autosomal recessive
Reversed 0
HGVS NC_000001.10:g.25870254G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005039.2,