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rs121909052

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121909052(A;G)
Make rs121909052(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position167823019
GeneSERPINI1
is asnp
is mentioned by
dbSNPrs121909052
dbSNP (classic)rs121909052
ClinGenrs121909052
ebirs121909052
HLIrs121909052
Exacrs121909052
Gnomadrs121909052
Varsomers121909052
LitVarrs121909052
Maprs121909052
PheGenIrs121909052
Biobankrs121909052
1000 genomesrs121909052
hgdprs121909052
ensemblrs121909052
geneviewrs121909052
scholarrs121909052
googlers121909052
pharmgkbrs121909052
gwascentralrs121909052
openSNPrs121909052
23andMers121909052
SNPshotrs121909052
SNPdbers121909052
MSV3drs121909052
GWAS Ctlgrs121909052
Max Magnitude0
OMIM602445
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909052(G;G)
Alt rs121909052(G;G)
Reference Rs121909052(A;A)
Significance Pathogenic
Disease Encephalopathy
Variation info
Gene SERPINI1
CLNDBN Encephalopathy, familial, with neuroserpin inclusion bodies
Reversed 0
HGVS NC_000003.11:g.167540807A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007504.3,