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rs1064792892

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GCTCGGCCCT;GCTCGGCCCT) 0 common in clinvar
Chromosome22
Position50526386
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs1064792892
dbSNP (old)rs1064792892
ClinGenrs1064792892
ebirs1064792892
HLIrs1064792892
Exacrs1064792892
Gnomadrs1064792892
Varsomers1064792892
LitVarrs1064792892
Maprs1064792892
PheGenIrs1064792892
Biobankrs1064792892
1000 genomesrs1064792892
hgdprs1064792892
ensemblrs1064792892
gopubmedrs1064792892
geneviewrs1064792892
scholarrs1064792892
googlers1064792892
pharmgkbrs1064792892
gwascentralrs1064792892
openSNPrs1064792892
23andMers1064792892
23andMe allrs1064792892
SNPshotrs1064792892
SNPdbers1064792892
MSV3drs1064792892
GWAS Ctlgrs1064792892
Max Magnitude0
ClinVar
Risk rs1064792892(AA;AA)
Alt rs1064792892(AA;AA)
Reference Rs1064792892(GCTCGGCCCT;GCTCGGCCCT)
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.50964815_50964824delAGGGCCGAGCinsTT
CLNSRC
CLNACC RCV000208673.1,