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rs121434452

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434452(A;A)
Make rs121434452(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position28844008
GeneMIR4721, TUFM
is asnp
is mentioned by
dbSNPrs121434452
dbSNP (classic)rs121434452
ClinGenrs121434452
ebirs121434452
HLIrs121434452
Exacrs121434452
Gnomadrs121434452
Varsomers121434452
LitVarrs121434452
Maprs121434452
PheGenIrs121434452
Biobankrs121434452
1000 genomesrs121434452
hgdprs121434452
ensemblrs121434452
geneviewrs121434452
scholarrs121434452
googlers121434452
pharmgkbrs121434452
gwascentralrs121434452
openSNPrs121434452
23andMers121434452
SNPshotrs121434452
SNPdbers121434452
MSV3drs121434452
GWAS Ctlgrs121434452
Max Magnitude0
OMIM602389
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434452(A;A)
Alt rs121434452(A;A)
Reference Rs121434452(G;G)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 4
Variation info
Gene TUFM NPIPB8 MIR4721
CLNDBN Combined oxidative phosphorylation deficiency 4
Reversed 1
HGVS NC_000016.9:g.28855329C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007698.3,