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rs773785934

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs773785934(C;T)
Make rs773785934(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50525919
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs773785934
dbSNP (classic)rs773785934
ClinGenrs773785934
ebirs773785934
HLIrs773785934
Exacrs773785934
Gnomadrs773785934
Varsomers773785934
LitVarrs773785934
Maprs773785934
PheGenIrs773785934
Biobankrs773785934
1000 genomesrs773785934
hgdprs773785934
ensemblrs773785934
geneviewrs773785934
scholarrs773785934
googlers773785934
pharmgkbrs773785934
gwascentralrs773785934
openSNPrs773785934
23andMers773785934
SNPshotrs773785934
SNPdbers773785934
MSV3drs773785934
GWAS Ctlgrs773785934
Max Magnitude0
ClinVar
Risk rs773785934(A;A) rs773785934(T;T)
Alt rs773785934(A;A) rs773785934(T;T)
Reference Rs773785934(C;C)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Variation info
Gene TYMP SCO2
CLNDBN Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Reversed 0
HGVS NC_000022.10:g.50964348C>T
CLNSRC
CLNACC RCV000208666.1,