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rs1054084896

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1054084896(A;A)
Make rs1054084896(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50529598
GeneTYMP
is asnp
is mentioned by
dbSNPrs1054084896
dbSNP (old)rs1054084896
ClinGenrs1054084896
ebirs1054084896
HLIrs1054084896
Exacrs1054084896
Gnomadrs1054084896
Varsomers1054084896
Maprs1054084896
PheGenIrs1054084896
Biobankrs1054084896
1000 genomesrs1054084896
hgdprs1054084896
ensemblrs1054084896
gopubmedrs1054084896
geneviewrs1054084896
scholarrs1054084896
googlers1054084896
pharmgkbrs1054084896
gwascentralrs1054084896
openSNPrs1054084896
23andMers1054084896
23andMe allrs1054084896
SNPshotrs1054084896
SNPdbers1054084896
MSV3drs1054084896
GWAS Ctlgrs1054084896
Max Magnitude0
ClinVar
Risk rs1054084896(A;A)
Alt rs1054084896(A;A)
Reference Rs1054084896(C;C)
Significance Pathogenic
Disease Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Variation info
Gene TYMP
CLNDBN Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Reversed 0
HGVS NC_000022.10:g.50968027C>A
CLNSRC
CLNACC RCV000208680.1,