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rs797044455

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797044455(C;C)
Make rs797044455(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position50526142
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs797044455
ebirs797044455
HLIrs797044455
Exacrs797044455
Varsomers797044455
Maprs797044455
PheGenIrs797044455
hapmaprs797044455
1000 genomesrs797044455
hgdprs797044455
ensemblrs797044455
gopubmedrs797044455
geneviewrs797044455
scholarrs797044455
googlers797044455
pharmgkbrs797044455
gwascentralrs797044455
openSNPrs797044455
23andMers797044455
23andMe allrs797044455
SNP Nexus

SNPshotrs797044455
SNPdbers797044455
MSV3drs797044455
GWAS Ctlgrs797044455
Max Magnitude0
ClinVar
Risk rs797044455(C;C)
Alt rs797044455(C;C)
Reference rs797044455(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.50964571C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018138.24,