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rs863224897

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863224897(-;-)
Make rs863224897(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position65003116
GeneMTFMT
is asnp
is mentioned by
dbSNPrs863224897
dbSNP (classic)rs863224897
ClinGenrs863224897
ebirs863224897
HLIrs863224897
Exacrs863224897
Gnomadrs863224897
Varsomers863224897
LitVarrs863224897
Maprs863224897
PheGenIrs863224897
Biobankrs863224897
1000 genomesrs863224897
hgdprs863224897
ensemblrs863224897
geneviewrs863224897
scholarrs863224897
googlers863224897
pharmgkbrs863224897
gwascentralrs863224897
openSNPrs863224897
23andMers863224897
SNPshotrs863224897
SNPdbers863224897
MSV3drs863224897
GWAS Ctlgrs863224897
Max Magnitude0
ClinVar
Risk rs863224897(-;-)
Alt rs863224897(-;-)
Reference Rs863224897(T;T)
Significance Probable-Pathogenic
Disease Combined oxidative phosphorylation deficiency 15
Variation info
Gene MTFMT
CLNDBN Combined oxidative phosphorylation deficiency 15
Reversed 1
HGVS NC_000015.9:g.65295454delA
CLNSRC
CLNACC RCV000196317.1,