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rs1060499534

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499534(A;A)
Make rs1060499534(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50526246
GeneSCO2, TYMP
is asnp
is mentioned by
dbSNPrs1060499534
dbSNP (old)rs1060499534
ClinGenrs1060499534
ebirs1060499534
HLIrs1060499534
Exacrs1060499534
Gnomadrs1060499534
Varsomers1060499534
LitVarrs1060499534
Maprs1060499534
PheGenIrs1060499534
Biobankrs1060499534
1000 genomesrs1060499534
hgdprs1060499534
ensemblrs1060499534
gopubmedrs1060499534
geneviewrs1060499534
scholarrs1060499534
googlers1060499534
pharmgkbrs1060499534
gwascentralrs1060499534
openSNPrs1060499534
23andMers1060499534
23andMe allrs1060499534
SNPshotrs1060499534
SNPdbers1060499534
MSV3drs1060499534
GWAS Ctlgrs1060499534
Max Magnitude0
ClinVar
Risk rs1060499534(A;A)
Alt rs1060499534(A;A)
Reference Rs1060499534(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.50964675C>T
CLNSRC
CLNACC RCV000208644.1,