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rs1064792873

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome22
Position50526141
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs1064792873
dbSNP (old)rs1064792873
ClinGenrs1064792873
ebirs1064792873
HLIrs1064792873
Exacrs1064792873
Gnomadrs1064792873
Varsomers1064792873
LitVarrs1064792873
Maprs1064792873
PheGenIrs1064792873
Biobankrs1064792873
1000 genomesrs1064792873
hgdprs1064792873
ensemblrs1064792873
gopubmedrs1064792873
geneviewrs1064792873
scholarrs1064792873
googlers1064792873
pharmgkbrs1064792873
gwascentralrs1064792873
openSNPrs1064792873
23andMers1064792873
23andMe allrs1064792873
SNPshotrs1064792873
SNPdbers1064792873
MSV3drs1064792873
GWAS Ctlgrs1064792873
Max Magnitude0
ClinVar
Risk rs1064792873(A;A)
Alt rs1064792873(A;A)
Reference Rs1064792873(G;G)
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.50964570C>T
CLNSRC
CLNACC RCV000208687.1,