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rs397515440

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515440(G;T)
Make rs397515440(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position31599310
GeneNUBPL
is asnp
is mentioned by
dbSNPrs397515440
ebirs397515440
HLIrs397515440
Exacrs397515440
Varsomers397515440
Maprs397515440
PheGenIrs397515440
hapmaprs397515440
1000 genomesrs397515440
hgdprs397515440
ensemblrs397515440
gopubmedrs397515440
geneviewrs397515440
scholarrs397515440
googlers397515440
pharmgkbrs397515440
gwascentralrs397515440
openSNPrs397515440
23andMers397515440
23andMe allrs397515440
SNP Nexus

SNPshotrs397515440
SNPdbers397515440
MSV3drs397515440
GWAS Ctlgrs397515440
Max Magnitude0
ClinVar
Risk rs397515440(T;T)
Alt rs397515440(T;T)
Reference rs397515440(G;G)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene NUBPL
CLNDBN Mitochondrial complex I deficiency
Reversed 0
HGVS NC_000014.8:g.32068516G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000043477.4,