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rs1060499533

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060499533(C;C)
Make rs1060499533(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50526293
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs1060499533
dbSNP (old)rs1060499533
ClinGenrs1060499533
ebirs1060499533
HLIrs1060499533
Exacrs1060499533
Gnomadrs1060499533
Varsomers1060499533
Maprs1060499533
PheGenIrs1060499533
Biobankrs1060499533
1000 genomesrs1060499533
hgdprs1060499533
ensemblrs1060499533
gopubmedrs1060499533
geneviewrs1060499533
scholarrs1060499533
googlers1060499533
pharmgkbrs1060499533
gwascentralrs1060499533
openSNPrs1060499533
23andMers1060499533
23andMe allrs1060499533
SNPshotrs1060499533
SNPdbers1060499533
MSV3drs1060499533
GWAS Ctlgrs1060499533
Max Magnitude0
ClinVar
Risk rs1060499533(C;C)
Alt rs1060499533(C;C)
Reference Rs1060499533(T;T)
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.50964722A>G
CLNSRC
CLNACC RCV000208705.1,