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rs878853264

From SNPedia

Orientationminus
Stabilizedminus
Make rs878853264(A;A)
Make rs878853264(A;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position153932075
GeneNAA10
is asnp
is mentioned by
dbSNPrs878853264
dbSNP (classic)rs878853264
ClinGenrs878853264
ebirs878853264
HLIrs878853264
Exacrs878853264
Gnomadrs878853264
Varsomers878853264
LitVarrs878853264
Maprs878853264
PheGenIrs878853264
Biobankrs878853264
1000 genomesrs878853264
hgdprs878853264
ensemblrs878853264
geneviewrs878853264
scholarrs878853264
googlers878853264
pharmgkbrs878853264
gwascentralrs878853264
openSNPrs878853264
23andMers878853264
SNPshotrs878853264
SNPdbers878853264
MSV3drs878853264
GWAS Ctlgrs878853264
Max Magnitude0
ClinVar
Risk rs878853264(A;A)
Alt rs878853264(A;A)
Reference Rs878853264(T;T)
Significance Pathogenic
Disease N-terminal acetyltransferase deficiency
Variation info
Gene NAA10
CLNDBN N-terminal acetyltransferase deficiency
Reversed 1
HGVS NC_000023.10:g.153197528A>T
CLNSRC
CLNACC RCV000225362.1,