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rs863225427

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863225427(A;C)
Make rs863225427(C;C)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position153933994
GeneNAA10
is asnp
is mentioned by
dbSNPrs863225427
ebirs863225427
HLIrs863225427
Exacrs863225427
Varsomers863225427
Maprs863225427
PheGenIrs863225427
hapmaprs863225427
1000 genomesrs863225427
hgdprs863225427
ensemblrs863225427
gopubmedrs863225427
geneviewrs863225427
scholarrs863225427
googlers863225427
pharmgkbrs863225427
gwascentralrs863225427
openSNPrs863225427
23andMers863225427
23andMe allrs863225427
SNP Nexus

SNPshotrs863225427
SNPdbers863225427
MSV3drs863225427
GWAS Ctlgrs863225427
Max Magnitude0
ClinVar
Risk rs863225427(C;C)
Alt rs863225427(C;C)
Reference rs863225427(A;A)
Significance Pathogenic
Disease N-terminal acetyltransferase deficiency
Variation info
Gene NAA10
CLNDBN N-terminal acetyltransferase deficiency
Reversed 1
HGVS NC_000023.10:g.153199447T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000202352.1,