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rs397514614

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514614(C;T)
Make rs397514614(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position65026876
GeneMTFMT
is asnp
is mentioned by
dbSNPrs397514614
ebirs397514614
HLIrs397514614
Exacrs397514614
Varsomers397514614
Maprs397514614
PheGenIrs397514614
hapmaprs397514614
1000 genomesrs397514614
hgdprs397514614
ensemblrs397514614
gopubmedrs397514614
geneviewrs397514614
scholarrs397514614
googlers397514614
pharmgkbrs397514614
gwascentralrs397514614
openSNPrs397514614
23andMers397514614
23andMe allrs397514614
SNP Nexus

SNPshotrs397514614
SNPdbers397514614
MSV3drs397514614
GWAS Ctlgrs397514614
Max Magnitude0
ClinVar
Risk rs397514614(T;T)
Alt rs397514614(T;T)
Reference rs397514614(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.65319214G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033050.4,