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rs1064792862

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Chromosome22
Position50529155
GeneTYMP
is asnp
is mentioned by
dbSNPrs1064792862
dbSNP (classic)rs1064792862
ClinGenrs1064792862
ebirs1064792862
HLIrs1064792862
Exacrs1064792862
Gnomadrs1064792862
Varsomers1064792862
LitVarrs1064792862
Maprs1064792862
PheGenIrs1064792862
Biobankrs1064792862
1000 genomesrs1064792862
hgdprs1064792862
ensemblrs1064792862
geneviewrs1064792862
scholarrs1064792862
googlers1064792862
pharmgkbrs1064792862
gwascentralrs1064792862
openSNPrs1064792862
23andMers1064792862
SNPshotrs1064792862
SNPdbers1064792862
MSV3drs1064792862
GWAS Ctlgrs1064792862
Max Magnitude0
ClinVar
Risk rs1064792862(C;C)
Alt rs1064792862(C;C)
Reference Rs1064792862(T;T)
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.50967584A>G
CLNSRC
CLNACC RCV000208677.1,