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rs1064792888

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome22
Position50526720
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs1064792888
dbSNP (old)rs1064792888
ClinGenrs1064792888
ebirs1064792888
HLIrs1064792888
Exacrs1064792888
Gnomadrs1064792888
Varsomers1064792888
Maprs1064792888
PheGenIrs1064792888
Biobankrs1064792888
1000 genomesrs1064792888
hgdprs1064792888
ensemblrs1064792888
gopubmedrs1064792888
geneviewrs1064792888
scholarrs1064792888
googlers1064792888
pharmgkbrs1064792888
gwascentralrs1064792888
openSNPrs1064792888
23andMers1064792888
23andMe allrs1064792888
SNPshotrs1064792888
SNPdbers1064792888
MSV3drs1064792888
GWAS Ctlgrs1064792888
Max Magnitude0
ClinVar
Risk rs1064792888(-;-)
Alt rs1064792888(-;-)
Reference Rs1064792888(C;C)
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.50965149delG
CLNSRC
CLNACC RCV000208623.1,