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rs121964848

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121964848(A;A)
Make rs121964848(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position6868873
GeneTPI1
is asnp
is mentioned by
dbSNPrs121964848
ebirs121964848
HLIrs121964848
Exacrs121964848
Varsomers121964848
Maprs121964848
PheGenIrs121964848
hapmaprs121964848
1000 genomesrs121964848
hgdprs121964848
ensemblrs121964848
gopubmedrs121964848
geneviewrs121964848
scholarrs121964848
googlers121964848
pharmgkbrs121964848
gwascentralrs121964848
openSNPrs121964848
23andMers121964848
23andMe allrs121964848
SNP Nexus

SNPshotrs121964848
SNPdbers121964848
MSV3drs121964848
GWAS Ctlgrs121964848
Max Magnitude0
OMIM190450
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121964848(A;A)
Alt rs121964848(A;A)
Reference rs121964848(G;G)
Significance Pathogenic
Disease Triosephosphate isomerase deficiency
Variation info
Gene TPI1
CLNDBN Triosephosphate isomerase deficiency
Reversed 0
HGVS NC_000012.11:g.6978037G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013289.25,