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rs1060499532

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060499532(C;C)
Make rs1060499532(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50526338
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs1060499532
dbSNP (old)rs1060499532
ClinGenrs1060499532
ebirs1060499532
HLIrs1060499532
Exacrs1060499532
Gnomadrs1060499532
Varsomers1060499532
LitVarrs1060499532
Maprs1060499532
PheGenIrs1060499532
Biobankrs1060499532
1000 genomesrs1060499532
hgdprs1060499532
ensemblrs1060499532
gopubmedrs1060499532
geneviewrs1060499532
scholarrs1060499532
googlers1060499532
pharmgkbrs1060499532
gwascentralrs1060499532
openSNPrs1060499532
23andMers1060499532
23andMe allrs1060499532
SNPshotrs1060499532
SNPdbers1060499532
MSV3drs1060499532
GWAS Ctlgrs1060499532
Max Magnitude0
ClinVar
Risk rs1060499532(C;C)
Alt rs1060499532(C;C)
Reference Rs1060499532(T;T)
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.50964767A>G
CLNSRC
CLNACC RCV000208689.1,