rs587780562

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs587780562(G;T)

Make rs587780562(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

X

Position

153932338

Gene

NAA10

is a	snp
is	mentioned by
dbSNP	rs587780562
dbSNP (classic)	rs587780562
ClinGen	rs587780562
ebi	rs587780562
HLI	rs587780562
Exac	rs587780562
Gnomad	rs587780562
Varsome	rs587780562
LitVar	rs587780562
Map	rs587780562
PheGenI	rs587780562
Biobank	rs587780562
1000 genomes	rs587780562
hgdp	rs587780562
ensembl	rs587780562
geneview	rs587780562
scholar	rs587780562
google	rs587780562
pharmgkb	rs587780562
gwascentral	rs587780562
openSNP	rs587780562
23andMe	rs587780562
SNPshot	rs587780562
SNPdbe	rs587780562
MSV3d	rs587780562
GWAS Ctlg	rs587780562

Max Magnitude

0

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	RCV000128608.3,