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rs1064792875

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome22
Position50525908
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs1064792875
dbSNP (classic)rs1064792875
ClinGenrs1064792875
ebirs1064792875
HLIrs1064792875
Exacrs1064792875
Gnomadrs1064792875
Varsomers1064792875
LitVarrs1064792875
Maprs1064792875
PheGenIrs1064792875
Biobankrs1064792875
1000 genomesrs1064792875
hgdprs1064792875
ensemblrs1064792875
geneviewrs1064792875
scholarrs1064792875
googlers1064792875
pharmgkbrs1064792875
gwascentralrs1064792875
openSNPrs1064792875
23andMers1064792875
23andMe allrs1064792875
SNPshotrs1064792875
SNPdbers1064792875
MSV3drs1064792875
GWAS Ctlgrs1064792875
Max Magnitude0
ClinVar
Risk rs1064792875(A;A)
Alt rs1064792875(A;A)
Reference Rs1064792875(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.50964337C>T
CLNSRC
CLNACC RCV000208654.1,