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rs397514598

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514598(A;G)
Make rs397514598(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position55667007
GenePNPT1
is asnp
is mentioned by
dbSNPrs397514598
ebirs397514598
HLIrs397514598
Exacrs397514598
Varsomers397514598
Maprs397514598
PheGenIrs397514598
hapmaprs397514598
1000 genomesrs397514598
hgdprs397514598
ensemblrs397514598
gopubmedrs397514598
geneviewrs397514598
scholarrs397514598
googlers397514598
pharmgkbrs397514598
gwascentralrs397514598
openSNPrs397514598
23andMers397514598
23andMe allrs397514598
SNP Nexus

SNPshotrs397514598
SNPdbers397514598
MSV3drs397514598
GWAS Ctlgrs397514598
Max Magnitude0
ClinVar
Risk rs397514598(G;G)
Alt rs397514598(G;G)
Reference rs397514598(A;A)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 13
Variation info
Gene PNPT1
CLNDBN Combined oxidative phosphorylation deficiency 13
Reversed 1
HGVS NC_000002.11:g.55894142T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000033022.2,