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rs892141220

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50526467
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs892141220
dbSNP (classic)rs892141220
ClinGenrs892141220
ebirs892141220
HLIrs892141220
Exacrs892141220
Gnomadrs892141220
Varsomers892141220
LitVarrs892141220
Maprs892141220
PheGenIrs892141220
Biobankrs892141220
1000 genomesrs892141220
hgdprs892141220
ensemblrs892141220
geneviewrs892141220
scholarrs892141220
googlers892141220
pharmgkbrs892141220
gwascentralrs892141220
openSNPrs892141220
23andMers892141220
SNPshotrs892141220
SNPdbers892141220
MSV3drs892141220
GWAS Ctlgrs892141220
Max Magnitude0
ClinVar
Risk rs892141220(G;G)
Alt rs892141220(G;G)
Reference Rs892141220(A;A)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Variation info
Gene SCO2 TYMP
CLNDBN Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Reversed 0
HGVS NC_000022.10:g.50964896A>G
CLNSRC
CLNACC RCV000208646.1,