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rs199476116

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs199476116(-;-)
Make rs199476116(-;AA)
ReferenceGRCh38 38.1/141
ChromosomeMT
Position5132
GeneMT-CO1
is asnp
is mentioned by
dbSNPrs199476116
ebirs199476116
HLIrs199476116
Exacrs199476116
Varsomers199476116
Maprs199476116
PheGenIrs199476116
hapmaprs199476116
1000 genomesrs199476116
hgdprs199476116
ensemblrs199476116
gopubmedrs199476116
geneviewrs199476116
scholarrs199476116
googlers199476116
pharmgkbrs199476116
gwascentralrs199476116
openSNPrs199476116
23andMers199476116
23andMe allrs199476116
SNP Nexus

SNPshotrs199476116
SNPdbers199476116
MSV3drs199476116
GWAS Ctlgrs199476116
Max Magnitude0
ClinVar
Risk rs199476116(;)
Alt rs199476116(;)
Reference rs199476116(AA;AA)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene ND2
CLNDBN Mitochondrial complex I deficiency
Reversed 0
HGVS NC_012920.1:m.5132_5133delAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000010367.2,