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rs754022333

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs754022333(C;T)
Make rs754022333(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position36480767
GeneTXN2
is asnp
is mentioned by
dbSNPrs754022333
dbSNP (classic)rs754022333
ClinGenrs754022333
ebirs754022333
HLIrs754022333
Exacrs754022333
Gnomadrs754022333
Varsomers754022333
LitVarrs754022333
Maprs754022333
PheGenIrs754022333
Biobankrs754022333
1000 genomesrs754022333
hgdprs754022333
ensemblrs754022333
geneviewrs754022333
scholarrs754022333
googlers754022333
pharmgkbrs754022333
gwascentralrs754022333
openSNPrs754022333
23andMers754022333
SNPshotrs754022333
SNPdbers754022333
MSV3drs754022333
GWAS Ctlgrs754022333
Max Magnitude0
ClinVar
Risk rs754022333(T;T)
Alt rs754022333(T;T)
Reference Rs754022333(C;C)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 29
Variation info
Gene TXN2
CLNDBN Combined oxidative phosphorylation deficiency 29
Reversed 0
HGVS NC_000022.10:g.36876814C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000207474.2,