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rs397514613

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514613(C;T)
Make rs397514613(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position65026868
GeneMTFMT
is asnp
is mentioned by
dbSNPrs397514613
ebirs397514613
HLIrs397514613
Exacrs397514613
Varsomers397514613
Maprs397514613
PheGenIrs397514613
hapmaprs397514613
1000 genomesrs397514613
hgdprs397514613
ensemblrs397514613
gopubmedrs397514613
geneviewrs397514613
scholarrs397514613
googlers397514613
pharmgkbrs397514613
gwascentralrs397514613
openSNPrs397514613
23andMers397514613
23andMe allrs397514613
SNP Nexus

SNPshotrs397514613
SNPdbers397514613
MSV3drs397514613
GWAS Ctlgrs397514613
Max Magnitude0
ClinVar
Risk rs397514613(T;T)
Alt rs397514613(T;T)
Reference rs397514613(C;C)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 15
Variation info
Gene MTFMT
CLNDBN Combined oxidative phosphorylation deficiency 15
Reversed 1
HGVS NC_000015.9:g.65319206G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033049.4,