Have questions? Visit https://www.reddit.com/r/SNPedia

rs751631278

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs751631278(A;A)
Make rs751631278(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position31826715
GeneNUBPL
is asnp
is mentioned by
dbSNPrs751631278
ebirs751631278
HLIrs751631278
Exacrs751631278
Varsomers751631278
Maprs751631278
PheGenIrs751631278
hapmaprs751631278
1000 genomesrs751631278
hgdprs751631278
ensemblrs751631278
gopubmedrs751631278
geneviewrs751631278
scholarrs751631278
googlers751631278
pharmgkbrs751631278
gwascentralrs751631278
openSNPrs751631278
23andMers751631278
23andMe allrs751631278
SNP Nexus

SNPshotrs751631278
SNPdbers751631278
MSV3drs751631278
GWAS Ctlgrs751631278
Max Magnitude0
ClinVar
Risk rs751631278(A;A)
Alt rs751631278(A;A)
Reference rs751631278(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.32295921G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000043478.4,