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rs770277446

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs770277446(A;T)
Make rs770277446(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50526244
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs770277446
dbSNP (classic)rs770277446
ClinGenrs770277446
ebirs770277446
HLIrs770277446
Exacrs770277446
Gnomadrs770277446
Varsomers770277446
LitVarrs770277446
Maprs770277446
PheGenIrs770277446
Biobankrs770277446
1000 genomesrs770277446
hgdprs770277446
ensemblrs770277446
geneviewrs770277446
scholarrs770277446
googlers770277446
pharmgkbrs770277446
gwascentralrs770277446
openSNPrs770277446
23andMers770277446
SNPshotrs770277446
SNPdbers770277446
MSV3drs770277446
GWAS Ctlgrs770277446
Max Magnitude0
ClinVar
Risk rs770277446(G;G) rs770277446(T;T)
Alt rs770277446(G;G) rs770277446(T;T)
Reference Rs770277446(A;A)
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.50964673A>T
CLNSRC
CLNACC RCV000208672.1,