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rs587777244

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777244(A;A)
Make rs587777244(A;G)
ReferenceGRCh38 38.1/142
Chromosome15
Position65023762
GeneMTFMT
is asnp
is mentioned by
dbSNPrs587777244
dbSNP (classic)rs587777244
ClinGenrs587777244
ebirs587777244
HLIrs587777244
Exacrs587777244
Gnomadrs587777244
Varsomers587777244
LitVarrs587777244
Maprs587777244
PheGenIrs587777244
Biobankrs587777244
1000 genomesrs587777244
hgdprs587777244
ensemblrs587777244
geneviewrs587777244
scholarrs587777244
googlers587777244
pharmgkbrs587777244
gwascentralrs587777244
openSNPrs587777244
23andMers587777244
SNPshotrs587777244
SNPdbers587777244
MSV3drs587777244
GWAS Ctlgrs587777244
Max Magnitude0
ClinVar
Risk rs587777244(A;A)
Alt rs587777244(A;A)
Reference Rs587777244(G;G)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 15
Variation info
Gene MTFMT
CLNDBN Combined oxidative phosphorylation deficiency 15
Reversed 0
HGVS NC_000015.9:g.65316100G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000106391.5,