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rs727502867

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727502867(-;-)
Make rs727502867(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position763902
GeneTALDO1
is asnp
is mentioned by
dbSNPrs727502867
dbSNP (classic)rs727502867
ClinGenrs727502867
ebirs727502867
HLIrs727502867
Exacrs727502867
Gnomadrs727502867
Varsomers727502867
LitVarrs727502867
Maprs727502867
PheGenIrs727502867
Biobankrs727502867
1000 genomesrs727502867
hgdprs727502867
ensemblrs727502867
geneviewrs727502867
scholarrs727502867
googlers727502867
pharmgkbrs727502867
gwascentralrs727502867
openSNPrs727502867
23andMers727502867
SNPshotrs727502867
SNPdbers727502867
MSV3drs727502867
GWAS Ctlgrs727502867
Max Magnitude0
ClinVar
Risk rs727502867(-;-)
Alt rs727502867(-;-)
Reference Rs727502867(C;C)
Significance Pathogenic
Disease Deficiency of transaldolase
Variation info
Gene TALDO1
CLNDBN Deficiency of transaldolase
Reversed 0
HGVS NC_000011.9:g.763902delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000150042.4,