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rs387906701

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906701(C;C)
Make rs387906701(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153934388
GeneNAA10
is asnp
is mentioned by
dbSNPrs387906701
ebirs387906701
HLIrs387906701
Exacrs387906701
Varsomers387906701
Maprs387906701
PheGenIrs387906701
hapmaprs387906701
1000 genomesrs387906701
hgdprs387906701
ensemblrs387906701
gopubmedrs387906701
geneviewrs387906701
scholarrs387906701
googlers387906701
pharmgkbrs387906701
gwascentralrs387906701
openSNPrs387906701
23andMers387906701
23andMe allrs387906701
SNP Nexus

SNPshotrs387906701
SNPdbers387906701
MSV3drs387906701
GWAS Ctlgrs387906701
Max Magnitude0
ClinVar
Risk rs387906701(C;C)
Alt rs387906701(C;C)
Reference rs387906701(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.153199841A>G
CLNSRC NAA10 @ LOVD OMIM Allelic Variant
CLNACC RCV000022818.22,