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rs121909054

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909054(A;A)
Make rs121909054(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position167825264
GeneSERPINI1
is asnp
is mentioned by
dbSNPrs121909054
dbSNP (classic)rs121909054
ClinGenrs121909054
ebirs121909054
HLIrs121909054
Exacrs121909054
Gnomadrs121909054
Varsomers121909054
LitVarrs121909054
Maprs121909054
PheGenIrs121909054
Biobankrs121909054
1000 genomesrs121909054
hgdprs121909054
ensemblrs121909054
geneviewrs121909054
scholarrs121909054
googlers121909054
pharmgkbrs121909054
gwascentralrs121909054
openSNPrs121909054
23andMers121909054
SNPshotrs121909054
SNPdbers121909054
MSV3drs121909054
GWAS Ctlgrs121909054
Max Magnitude0
OMIM602445
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121909054(A;A)
Alt rs121909054(A;A)
Reference Rs121909054(G;G)
Significance Pathogenic
Disease Encephalopathy
Variation info
Gene SERPINI1
CLNDBN Encephalopathy, familial, with neuroserpin inclusion bodies
Reversed 0
HGVS NC_000003.11:g.167543052G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007506.3,