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rs1064792880

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Chromosome22
Position50529610
GeneTYMP
is asnp
is mentioned by
dbSNPrs1064792880
dbSNP (old)rs1064792880
ClinGenrs1064792880
ebirs1064792880
HLIrs1064792880
Exacrs1064792880
Gnomadrs1064792880
Varsomers1064792880
Maprs1064792880
PheGenIrs1064792880
Biobankrs1064792880
1000 genomesrs1064792880
hgdprs1064792880
ensemblrs1064792880
gopubmedrs1064792880
geneviewrs1064792880
scholarrs1064792880
googlers1064792880
pharmgkbrs1064792880
gwascentralrs1064792880
openSNPrs1064792880
23andMers1064792880
23andMe allrs1064792880
SNPshotrs1064792880
SNPdbers1064792880
MSV3drs1064792880
GWAS Ctlgrs1064792880
Max Magnitude0
ClinVar
Risk rs1064792880(C;C)
Alt rs1064792880(C;C)
Reference Rs1064792880(-;-)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Variation info
Gene TYMP
CLNDBN Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Reversed 1
HGVS NC_000022.10:g.50968040dup
CLNSRC
CLNACC RCV000208709.1,