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rs587777419

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777419(A;A)
Make rs587777419(A;G)
ReferenceGRCh38 38.1/142
Chromosome15
Position65029541
GeneMTFMT
is asnp
is mentioned by
dbSNPrs587777419
ebirs587777419
HLIrs587777419
Exacrs587777419
Varsomers587777419
Maprs587777419
PheGenIrs587777419
hapmaprs587777419
1000 genomesrs587777419
hgdprs587777419
ensemblrs587777419
gopubmedrs587777419
geneviewrs587777419
scholarrs587777419
googlers587777419
pharmgkbrs587777419
gwascentralrs587777419
openSNPrs587777419
23andMers587777419
23andMe allrs587777419
SNP Nexus

SNPshotrs587777419
SNPdbers587777419
MSV3drs587777419
GWAS Ctlgrs587777419
Max Magnitude0
ClinVar
Risk rs587777419(A,G;A,G)
Alt rs587777419(A,G;A,G)
Reference rs587777419(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.65321879G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000119837.4,