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rs587777418

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777418(C;T)
Make rs587777418(T;T)
ReferenceGRCh38 38.1/142
Chromosome15
Position65006127
GeneMTFMT
is asnp
is mentioned by
dbSNPrs587777418
ebirs587777418
HLIrs587777418
Exacrs587777418
Varsomers587777418
Maprs587777418
PheGenIrs587777418
hapmaprs587777418
1000 genomesrs587777418
hgdprs587777418
ensemblrs587777418
gopubmedrs587777418
geneviewrs587777418
scholarrs587777418
googlers587777418
pharmgkbrs587777418
gwascentralrs587777418
openSNPrs587777418
23andMers587777418
23andMe allrs587777418
SNP Nexus

SNPshotrs587777418
SNPdbers587777418
MSV3drs587777418
GWAS Ctlgrs587777418
Max Magnitude0
ClinVar
Risk rs587777418(C,T;C,T)
Alt rs587777418(C,T;C,T)
Reference rs587777418(G;G)
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.65298465C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000119836.3,