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rs1064792891

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GCCATT;GCCATT) 0 common in clinvar
Chromosome22
Position50525819
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs1064792891
dbSNP (classic)rs1064792891
ClinGenrs1064792891
ebirs1064792891
HLIrs1064792891
Exacrs1064792891
Gnomadrs1064792891
Varsomers1064792891
LitVarrs1064792891
Maprs1064792891
PheGenIrs1064792891
Biobankrs1064792891
1000 genomesrs1064792891
hgdprs1064792891
ensemblrs1064792891
geneviewrs1064792891
scholarrs1064792891
googlers1064792891
pharmgkbrs1064792891
gwascentralrs1064792891
openSNPrs1064792891
23andMers1064792891
23andMe allrs1064792891
SNPshotrs1064792891
SNPdbers1064792891
MSV3drs1064792891
GWAS Ctlgrs1064792891
Max Magnitude0
ClinVar
Risk rs1064792891(-;-)
Alt rs1064792891(-;-)
Reference Rs1064792891(GCCATT;GCCATT)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Variation info
Gene TYMP SCO2
CLNDBN Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Reversed 1
HGVS NC_000022.10:g.50964248_50964253delAATGGC
CLNSRC
CLNACC RCV000208631.1,