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rs28939679

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28939679(C;T)
Make rs28939679(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position68033147
GeneMIR4691, NDUFS8
is asnp
is mentioned by
dbSNPrs28939679
ebirs28939679
HLIrs28939679
Exacrs28939679
Varsomers28939679
Maprs28939679
PheGenIrs28939679
hapmaprs28939679
1000 genomesrs28939679
hgdprs28939679
ensemblrs28939679
gopubmedrs28939679
geneviewrs28939679
scholarrs28939679
googlers28939679
pharmgkbrs28939679
gwascentralrs28939679
openSNPrs28939679
23andMers28939679
23andMe allrs28939679
SNP Nexus

SNPshotrs28939679
SNPdbers28939679
MSV3drs28939679
GWAS Ctlgrs28939679
Max Magnitude0
OMIM602141
DescLEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
Variant0001
Relatedalso


ClinVar
Risk rs28939679(T;T)
Alt rs28939679(T;T)
Reference rs28939679(C;C)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene MIR7113 MIR4691 NDUFS8
CLNDBN Mitochondrial complex I deficiency
Reversed 0
HGVS NC_000011.9:g.67800614C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007941.3,