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rs121964850

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964850(G;T)
Make rs121964850(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position6869369
GeneTPI1
is asnp
is mentioned by
dbSNPrs121964850
ebirs121964850
HLIrs121964850
Exacrs121964850
Varsomers121964850
Maprs121964850
PheGenIrs121964850
hapmaprs121964850
1000 genomesrs121964850
hgdprs121964850
ensemblrs121964850
gopubmedrs121964850
geneviewrs121964850
scholarrs121964850
googlers121964850
pharmgkbrs121964850
gwascentralrs121964850
openSNPrs121964850
23andMers121964850
23andMe allrs121964850
SNP Nexus

SNPshotrs121964850
SNPdbers121964850
MSV3drs121964850
GWAS Ctlgrs121964850
Max Magnitude0
OMIM190450
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121964850(T;T)
Alt rs121964850(T;T)
Reference rs121964850(G;G)
Significance Pathogenic
Disease Triosephosphate isomerase deficiency
Variation info
Gene TPI1
CLNDBN Triosephosphate isomerase deficiency
Reversed 0
HGVS NC_000012.11:g.6978533G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013291.26,