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rs1064792881

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Chromosome22
Position50526393
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs1064792881
dbSNP (classic)rs1064792881
ClinGenrs1064792881
ebirs1064792881
HLIrs1064792881
Exacrs1064792881
Gnomadrs1064792881
Varsomers1064792881
LitVarrs1064792881
Maprs1064792881
PheGenIrs1064792881
Biobankrs1064792881
1000 genomesrs1064792881
hgdprs1064792881
ensemblrs1064792881
geneviewrs1064792881
scholarrs1064792881
googlers1064792881
pharmgkbrs1064792881
gwascentralrs1064792881
openSNPrs1064792881
23andMers1064792881
SNPshotrs1064792881
SNPdbers1064792881
MSV3drs1064792881
GWAS Ctlgrs1064792881
Max Magnitude0
ClinVar
Risk rs1064792881(GCGGCGCTGGACGACGGC;GCGGCGCTGGACGACGGC)
Alt rs1064792881(GCGGCGCTGGACGACGGC;GCGGCGCTGGACGACGGC)
Reference Rs1064792881(-;-)
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.50964823_50964840dup
CLNSRC
CLNACC RCV000208647.1,