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rs587777417

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GAGCACCC;GAGCACCC) 0 common in clinvar
(GGGTGCTCT;GGGTGCTCT) 0 common in clinvar
Make rs587777417(-;-)
Make rs587777417(-;GAGCACCC)
ReferenceGRCh38 38.1/142
Chromosome15
Position65029461
GeneMTFMT
is asnp
is mentioned by
dbSNPrs587777417
ebirs587777417
HLIrs587777417
Exacrs587777417
Varsomers587777417
Maprs587777417
PheGenIrs587777417
hapmaprs587777417
1000 genomesrs587777417
hgdprs587777417
ensemblrs587777417
gopubmedrs587777417
geneviewrs587777417
scholarrs587777417
googlers587777417
pharmgkbrs587777417
gwascentralrs587777417
openSNPrs587777417
23andMers587777417
23andMe allrs587777417
SNP Nexus

SNPshotrs587777417
SNPdbers587777417
MSV3drs587777417
GWAS Ctlgrs587777417
Max Magnitude0
ClinVar
Risk rs587777417(GAGCACCCT,T;GAGCACCCT,T)
Alt rs587777417(GAGCACCCT,T;GAGCACCCT,T)
Reference rs587777417(GGGTGCTCT;GGGTGCTCT)
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.65321799_65321806delGAGCACCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000119835.3,