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rs1064792863

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Chromosome22
Position50528561
GeneTYMP
is asnp
is mentioned by
dbSNPrs1064792863
dbSNP (classic)rs1064792863
ClinGenrs1064792863
ebirs1064792863
HLIrs1064792863
Exacrs1064792863
Gnomadrs1064792863
Varsomers1064792863
LitVarrs1064792863
Maprs1064792863
PheGenIrs1064792863
Biobankrs1064792863
1000 genomesrs1064792863
hgdprs1064792863
ensemblrs1064792863
geneviewrs1064792863
scholarrs1064792863
googlers1064792863
pharmgkbrs1064792863
gwascentralrs1064792863
openSNPrs1064792863
23andMers1064792863
23andMe allrs1064792863
SNPshotrs1064792863
SNPdbers1064792863
MSV3drs1064792863
GWAS Ctlgrs1064792863
Max Magnitude0
ClinVar
Risk rs1064792863(G;G)
Alt rs1064792863(G;G)
Reference Rs1064792863(A;A)
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.50966990T>C
CLNSRC
CLNACC RCV000208704.1,