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rs1064792872

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome22
Position50526611
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs1064792872
dbSNP (old)rs1064792872
ClinGenrs1064792872
ebirs1064792872
HLIrs1064792872
Exacrs1064792872
Gnomadrs1064792872
Varsomers1064792872
LitVarrs1064792872
Maprs1064792872
PheGenIrs1064792872
Biobankrs1064792872
1000 genomesrs1064792872
hgdprs1064792872
ensemblrs1064792872
gopubmedrs1064792872
geneviewrs1064792872
scholarrs1064792872
googlers1064792872
pharmgkbrs1064792872
gwascentralrs1064792872
openSNPrs1064792872
23andMers1064792872
23andMe allrs1064792872
SNPshotrs1064792872
SNPdbers1064792872
MSV3drs1064792872
GWAS Ctlgrs1064792872
Max Magnitude0
ClinVar
Risk rs1064792872(A;A)
Alt rs1064792872(A;A)
Reference Rs1064792872(G;G)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Variation info
Gene SCO2 TYMP
CLNDBN Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Reversed 1
HGVS NC_000022.10:g.50965040C>T
CLNSRC
CLNACC RCV000208710.1,