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rs1060499535

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499535(-;-)
Make rs1060499535(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50526317
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs1060499535
dbSNP (old)rs1060499535
ClinGenrs1060499535
ebirs1060499535
HLIrs1060499535
Exacrs1060499535
Gnomadrs1060499535
Varsomers1060499535
Maprs1060499535
PheGenIrs1060499535
Biobankrs1060499535
1000 genomesrs1060499535
hgdprs1060499535
ensemblrs1060499535
gopubmedrs1060499535
geneviewrs1060499535
scholarrs1060499535
googlers1060499535
pharmgkbrs1060499535
gwascentralrs1060499535
openSNPrs1060499535
23andMers1060499535
23andMe allrs1060499535
SNPshotrs1060499535
SNPdbers1060499535
MSV3drs1060499535
GWAS Ctlgrs1060499535
Max Magnitude0
ClinVar
Risk rs1060499535(-;-)
Alt rs1060499535(-;-)
Reference Rs1060499535(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.50964746delC
CLNSRC
CLNACC RCV000208695.1,