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rs552722349

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs552722349(A;G)
Make rs552722349(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position31787845
GeneNUBPL
is asnp
is mentioned by
dbSNPrs552722349
ebirs552722349
HLIrs552722349
Exacrs552722349
Varsomers552722349
Maprs552722349
PheGenIrs552722349
hapmaprs552722349
1000 genomesrs552722349
hgdprs552722349
ensemblrs552722349
gopubmedrs552722349
geneviewrs552722349
scholarrs552722349
googlers552722349
pharmgkbrs552722349
gwascentralrs552722349
openSNPrs552722349
23andMers552722349
23andMe allrs552722349
SNP Nexus

SNPshotrs552722349
SNPdbers552722349
MSV3drs552722349
GWAS Ctlgrs552722349
Max Magnitude0
ClinVar
Risk rs552722349(G;G)
Alt rs552722349(G;G)
Reference rs552722349(A;A)
Significance Pathogenic
Disease Mitochondrial complex I deficiency
Variation info
Gene NUBPL
CLNDBN Mitochondrial complex I deficiency
Reversed 0
HGVS NC_000014.8:g.32257051A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000043479.4,