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rs1057519448

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519448(C;C)
Make rs1057519448(C;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position153932549
GeneNAA10
is asnp
is mentioned by
dbSNPrs1057519448
dbSNP (old)rs1057519448
ClinGenrs1057519448
ebirs1057519448
HLIrs1057519448
Exacrs1057519448
Gnomadrs1057519448
Varsomers1057519448
Maprs1057519448
PheGenIrs1057519448
Biobankrs1057519448
1000 genomesrs1057519448
hgdprs1057519448
ensemblrs1057519448
gopubmedrs1057519448
geneviewrs1057519448
scholarrs1057519448
googlers1057519448
pharmgkbrs1057519448
gwascentralrs1057519448
openSNPrs1057519448
23andMers1057519448
23andMe allrs1057519448
SNPshotrs1057519448
SNPdbers1057519448
MSV3drs1057519448
GWAS Ctlgrs1057519448
Max Magnitude0
ClinVar
Risk rs1057519448(C;C)
Alt rs1057519448(C;C)
Reference Rs1057519448(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.153198002A>G
CLNSRC
CLNACC RCV000416440.1,