rs387906701

Orientation

minus

Stabilized

minus

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

Make rs387906701(C;C)

Make rs387906701(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

153934388

Gene

NAA10

is a	snp
is	mentioned by
dbSNP	rs387906701
dbSNP (classic)	rs387906701
ClinGen	rs387906701
ebi	rs387906701
HLI	rs387906701
Exac	rs387906701
Gnomad	rs387906701
Varsome	rs387906701
LitVar	rs387906701
Map	rs387906701
PheGenI	rs387906701
Biobank	rs387906701
1000 genomes	rs387906701
hgdp	rs387906701
ensembl	rs387906701
geneview	rs387906701
scholar	rs387906701
google	rs387906701
pharmgkb	rs387906701
gwascentral	rs387906701
openSNP	rs387906701
23andMe	rs387906701
SNPshot	rs387906701
SNPdbe	rs387906701
MSV3d	rs387906701
GWAS Ctlg	rs387906701

Max Magnitude

0

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 UniProtKB (protein)
CLNACC	RCV000022818.25,