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rs730882155

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730882155(C;T)
Make rs730882155(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position78528890
GeneNARS2
is asnp
is mentioned by
dbSNPrs730882155
dbSNP (classic)rs730882155
ClinGenrs730882155
ebirs730882155
HLIrs730882155
Exacrs730882155
Gnomadrs730882155
Varsomers730882155
LitVarrs730882155
Maprs730882155
PheGenIrs730882155
Biobankrs730882155
1000 genomesrs730882155
hgdprs730882155
ensemblrs730882155
geneviewrs730882155
scholarrs730882155
googlers730882155
pharmgkbrs730882155
gwascentralrs730882155
openSNPrs730882155
23andMers730882155
SNPshotrs730882155
SNPdbers730882155
MSV3drs730882155
GWAS Ctlgrs730882155
Max Magnitude0
ClinVar
Risk rs730882155(T;T)
Alt rs730882155(T;T)
Reference Rs730882155(C;C)
Significance Pathogenic
Disease Combined oxidative phosphorylation deficiency 24
Variation info
Gene NARS2
CLNDBN Combined oxidative phosphorylation deficiency 24
Reversed 1
HGVS NC_000011.9:g.78239936G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000162035.3,