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rs121964846

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964846(A;A)
Make rs121964846(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position6869300
GeneTPI1
is asnp
is mentioned by
dbSNPrs121964846
dbSNP (classic)rs121964846
ClinGenrs121964846
ebirs121964846
HLIrs121964846
Exacrs121964846
Gnomadrs121964846
Varsomers121964846
LitVarrs121964846
Maprs121964846
PheGenIrs121964846
Biobankrs121964846
1000 genomesrs121964846
hgdprs121964846
ensemblrs121964846
geneviewrs121964846
scholarrs121964846
googlers121964846
pharmgkbrs121964846
gwascentralrs121964846
openSNPrs121964846
23andMers121964846
SNPshotrs121964846
SNPdbers121964846
MSV3drs121964846
GWAS Ctlgrs121964846
Max Magnitude0
OMIM190450
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121964846(A;A)
Alt rs121964846(A;A)
Reference Rs121964846(G;G)
Significance Pathogenic
Disease Triosephosphate isomerase manchester
Variation info
Gene TPI1
CLNDBN Triosephosphate isomerase manchester
Reversed 0
HGVS NC_000012.11:g.6978464G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013285.26,