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rs28939714

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28939714(C;T)
Make rs28939714(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position47582140
GeneNDUFS3
is asnp
is mentioned by
dbSNPrs28939714
ebirs28939714
HLIrs28939714
Exacrs28939714
Varsomers28939714
Maprs28939714
PheGenIrs28939714
hapmaprs28939714
1000 genomesrs28939714
hgdprs28939714
ensemblrs28939714
gopubmedrs28939714
geneviewrs28939714
scholarrs28939714
googlers28939714
pharmgkbrs28939714
gwascentralrs28939714
openSNPrs28939714
23andMers28939714
23andMe allrs28939714
SNP Nexus

SNPshotrs28939714
SNPdbers28939714
MSV3drs28939714
GWAS Ctlgrs28939714
Max Magnitude0
OMIM603846
DescLEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
Variant0001
Relatedalso
ClinVar
Risk rs28939714(G,T;G,T)
Alt rs28939714(G,T;G,T)
Reference rs28939714(C;C)
Significance Pathogenic
Disease Leigh syndrome due to mitochondrial complex I deficiency
Variation info
Gene NDUFS3
CLNDBN Leigh syndrome due to mitochondrial complex I deficiency
Reversed 0
HGVS NC_000011.9:g.47603692C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006390.2,