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rs201431517

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201431517(A;A)
Make rs201431517(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position65021533
GeneMTFMT
is asnp
is mentioned by
dbSNPrs201431517
ebirs201431517
HLIrs201431517
Exacrs201431517
Varsomers201431517
Maprs201431517
PheGenIrs201431517
hapmaprs201431517
1000 genomesrs201431517
hgdprs201431517
ensemblrs201431517
gopubmedrs201431517
geneviewrs201431517
scholarrs201431517
googlers201431517
pharmgkbrs201431517
gwascentralrs201431517
openSNPrs201431517
23andMers201431517
23andMe allrs201431517
SNP Nexus

SNPshotrs201431517
SNPdbers201431517
MSV3drs201431517
GWAS Ctlgrs201431517
Max Magnitude0
ClinVar
Risk rs201431517(A;A)
Alt rs201431517(A;A)
Reference rs201431517(G;G)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 15 Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome
Variation info
Gene MTFMT
CLNDBN Combined oxidative phosphorylation deficiency 15 Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome
Reversed 0
HGVS NC_000015.9:g.65313871G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033047.6, RCV000033048.5, RCV000190888.1,