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rs587780562

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587780562(G;T)
Make rs587780562(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position153932338
GeneNAA10
is asnp
is mentioned by
dbSNPrs587780562
ebirs587780562
HLIrs587780562
Exacrs587780562
Varsomers587780562
Maprs587780562
PheGenIrs587780562
hapmaprs587780562
1000 genomesrs587780562
hgdprs587780562
ensemblrs587780562
gopubmedrs587780562
geneviewrs587780562
scholarrs587780562
googlers587780562
pharmgkbrs587780562
gwascentralrs587780562
openSNPrs587780562
23andMers587780562
23andMe allrs587780562
SNP Nexus

SNPshotrs587780562
SNPdbers587780562
MSV3drs587780562
GWAS Ctlgrs587780562
Max Magnitude0
ClinVar
Risk rs587780562(T;T)
Alt rs587780562(T;T)
Reference rs587780562(G;G)
Significance Pathogenic
Disease N-terminal acetyltransferase deficiency
Variation info
Gene NAA10
CLNDBN N-terminal acetyltransferase deficiency
Reversed 1
HGVS NC_000023.10:g.153197791C>A
CLNSRC NAA10 @ LOVD OMIM Allelic Variant
CLNACC RCV000128608.1,