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rs587780563

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587780563(C;T)
Make rs587780563(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position153932111
GeneNAA10
is asnp
is mentioned by
dbSNPrs587780563
ebirs587780563
HLIrs587780563
Exacrs587780563
Varsomers587780563
Maprs587780563
PheGenIrs587780563
hapmaprs587780563
1000 genomesrs587780563
hgdprs587780563
ensemblrs587780563
gopubmedrs587780563
geneviewrs587780563
scholarrs587780563
googlers587780563
pharmgkbrs587780563
gwascentralrs587780563
openSNPrs587780563
23andMers587780563
23andMe allrs587780563
SNP Nexus

SNPshotrs587780563
SNPdbers587780563
MSV3drs587780563
GWAS Ctlgrs587780563
Max Magnitude0
ClinVar
Risk rs587780563(T;T)
Alt rs587780563(T;T)
Reference rs587780563(C;C)
Significance Pathogenic
Disease N-terminal acetyltransferase deficiency
Variation info
Gene NAA10
CLNDBN N-terminal acetyltransferase deficiency
Reversed 1
HGVS NC_000023.10:g.153197564G>A
CLNSRC Friedrich-Alexander-Universität Erlangen-Nürnberg OMIM Allelic Variant
CLNACC RCV000128609.2,