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rs118161496

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118161496(C;C)
Make rs118161496(C;T)
ReferenceGRCh38 38.1/142
Chromosome14
Position31850092
GeneNUBPL
is asnp
is mentioned by
dbSNPrs118161496
ebirs118161496
HLIrs118161496
Exacrs118161496
Varsomers118161496
Maprs118161496
PheGenIrs118161496
hapmaprs118161496
1000 genomesrs118161496
hgdprs118161496
ensemblrs118161496
gopubmedrs118161496
geneviewrs118161496
scholarrs118161496
googlers118161496
pharmgkbrs118161496
gwascentralrs118161496
openSNPrs118161496
23andMers118161496
23andMe allrs118161496
SNP Nexus

SNPshotrs118161496
SNPdbers118161496
MSV3drs118161496
GWAS Ctlgrs118161496
Max Magnitude0
ClinVar
Risk rs118161496(C;C)
Alt rs118161496(C;C)
Reference rs118161496(T;T)
Significance Pathogenic
Disease Mitochondrial complex I deficiency not provided Inborn genetic diseases
Variation info
Gene NUBPL
CLNDBN Mitochondrial complex I deficiency not provided Inborn genetic diseases
Reversed 0
HGVS NC_000014.8:g.32319298T>C
CLNSRC Baylor College of Medicine
CLNACC RCV000000017.3, RCV000198391.1, RCV000210589.1,