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rs104894270

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894270(C;T)
Make rs104894270(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position47582436
GeneNDUFS3
is asnp
is mentioned by
dbSNPrs104894270
ebirs104894270
HLIrs104894270
Exacrs104894270
Varsomers104894270
Maprs104894270
PheGenIrs104894270
hapmaprs104894270
1000 genomesrs104894270
hgdprs104894270
ensemblrs104894270
gopubmedrs104894270
geneviewrs104894270
scholarrs104894270
googlers104894270
pharmgkbrs104894270
gwascentralrs104894270
openSNPrs104894270
23andMers104894270
23andMe allrs104894270
SNP Nexus

SNPshotrs104894270
SNPdbers104894270
MSV3drs104894270
GWAS Ctlgrs104894270
Max Magnitude0
OMIM603846
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894270(T;T)
Alt rs104894270(T;T)
Reference rs104894270(C;C)
Significance Pathogenic
Disease Leigh syndrome due to mitochondrial complex I deficiency Mitochondrial complex I deficiency
Variation info
Gene NDUFS3
CLNDBN Leigh syndrome due to mitochondrial complex I deficiency Mitochondrial complex I deficiency
Reversed 0
HGVS NC_000011.9:g.47603988C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006391.3, RCV000033058.3,