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rs63751061

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs63751061(C;C)
Make rs63751061(C;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position96896790
GeneNDUFAF4
is asnp
is mentioned by
dbSNPrs63751061
ebirs63751061
HLIrs63751061
Exacrs63751061
Varsomers63751061
Maprs63751061
PheGenIrs63751061
hapmaprs63751061
1000 genomesrs63751061
hgdprs63751061
ensemblrs63751061
gopubmedrs63751061
geneviewrs63751061
scholarrs63751061
googlers63751061
pharmgkbrs63751061
gwascentralrs63751061
openSNPrs63751061
23andMers63751061
23andMe allrs63751061
SNP Nexus

SNPshotrs63751061
SNPdbers63751061
MSV3drs63751061
GWAS Ctlgrs63751061
Max Magnitude0
OMIM611776
Desc
Variant0001
Relatedalso


ClinVar
Risk rs63751061(C;C)
Alt rs63751061(C;C)
Reference rs63751061(T;T)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene NDUFAF4
CLNDBN Mitochondrial complex I deficiency
Reversed 1
HGVS NC_000006.11:g.97344666A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000826.2,



[PMID 18179882OA-icon.png] C6ORF66 is an assembly factor of mitochondrial complex I.