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rs200286768

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200286768(A;A)
Make rs200286768(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position65003238
GeneMTFMT
is asnp
is mentioned by
dbSNPrs200286768
ebirs200286768
HLIrs200286768
Exacrs200286768
Varsomers200286768
Maprs200286768
PheGenIrs200286768
hapmaprs200286768
1000 genomesrs200286768
hgdprs200286768
ensemblrs200286768
gopubmedrs200286768
geneviewrs200286768
scholarrs200286768
googlers200286768
pharmgkbrs200286768
gwascentralrs200286768
openSNPrs200286768
23andMers200286768
23andMe allrs200286768
SNP Nexus

SNPshotrs200286768
SNPdbers200286768
MSV3drs200286768
GWAS Ctlgrs200286768
Max Magnitude0
ClinVar
Risk rs200286768(A,T;A,T)
Alt rs200286768(A,T;A,T)
Reference rs200286768(G;G)
Significance Pathogenic
Disease Leigh syndrome due to mitochondrial complex I deficiency Combined oxidative phosphorylation deficiency 15
Variation info
Gene MTFMT
CLNDBN Leigh syndrome due to mitochondrial complex I deficiency Combined oxidative phosphorylation deficiency 15
Reversed 0
HGVS NC_000015.9:g.65295576G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033051.6, RCV000106390.5,