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rs200401432

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200401432(A;A)
Make rs200401432(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position31562125
GeneNUBPL
is asnp
is mentioned by
dbSNPrs200401432
ebirs200401432
HLIrs200401432
Exacrs200401432
Varsomers200401432
Maprs200401432
PheGenIrs200401432
hapmaprs200401432
1000 genomesrs200401432
hgdprs200401432
ensemblrs200401432
gopubmedrs200401432
geneviewrs200401432
scholarrs200401432
googlers200401432
pharmgkbrs200401432
gwascentralrs200401432
openSNPrs200401432
23andMers200401432
23andMe allrs200401432
SNP Nexus

SNPshotrs200401432
SNPdbers200401432
MSV3drs200401432
GWAS Ctlgrs200401432
Max Magnitude0
ClinVar
Risk rs200401432(A;A)
Alt rs200401432(A;A)
Reference rs200401432(G;G)
Significance Pathogenic
Disease Mitochondrial complex I deficiency not specified
Variation info
Gene NUBPL
CLNDBN Mitochondrial complex I deficiency not specified
Reversed 0
HGVS NC_000014.8:g.32031331G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000017.3, RCV000196589.2,