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rs121964847

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121964847(C;C)
Make rs121964847(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position6870354
GeneTPI1
is asnp
is mentioned by
dbSNPrs121964847
ebirs121964847
HLIrs121964847
Exacrs121964847
Varsomers121964847
Maprs121964847
PheGenIrs121964847
hapmaprs121964847
1000 genomesrs121964847
hgdprs121964847
ensemblrs121964847
gopubmedrs121964847
geneviewrs121964847
scholarrs121964847
googlers121964847
pharmgkbrs121964847
gwascentralrs121964847
openSNPrs121964847
23andMers121964847
23andMe allrs121964847
SNP Nexus

SNPshotrs121964847
SNPdbers121964847
MSV3drs121964847
GWAS Ctlgrs121964847
Max Magnitude0
OMIM190450
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121964847(C;C)
Alt rs121964847(C;C)
Reference rs121964847(T;T)
Significance Pathogenic
Disease Triosephosphate isomerase deficiency
Variation info
Gene TPI1
CLNDBN Triosephosphate isomerase deficiency
Reversed 0
HGVS NC_000012.11:g.6979518T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013287.26,