rs587777212

Orientation

plus

Stabilized

plus

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

Make rs587777212(-;-)

Make rs587777212(-;GGCCGCCGGGGGGGCGCGG)

Make rs587777212(GGCCGCCGGGGGGGCGCGG;GGCCGCCGGGGGGGCGCGG)

Reference

GRCh38 38.1/142

Chromosome

4

Position

2059723

Gene

NAT8L

is a	snp
is	mentioned by
dbSNP	rs587777212
dbSNP (classic)	rs587777212
ClinGen	rs587777212
ebi	rs587777212
HLI	rs587777212
Exac	rs587777212
Gnomad	rs587777212
Varsome	rs587777212
LitVar	rs587777212
Map	rs587777212
PheGenI	rs587777212
Biobank	rs587777212
1000 genomes	rs587777212
hgdp	rs587777212
ensembl	rs587777212
geneview	rs587777212
scholar	rs587777212
google	rs587777212
pharmgkb	rs587777212
gwascentral	rs587777212
openSNP	rs587777212
23andMe	rs587777212
SNPshot	rs587777212
SNPdbe	rs587777212
MSV3d	rs587777212
GWAS Ctlg	rs587777212

Max Magnitude

0

ClinVar
Risk	rs587777212(-;-)
Alt	rs587777212(-;-)
Reference	Rs587777212(GGGGGGCGCGGGGCCGCCG;GGGGGGCGCGGGGCCGCCG)
Significance	Pathogenic
Disease	N-acetylaspartate deficiency
Variation	info
Gene	NAT8L
CLNDBN	N-acetylaspartate deficiency
Reversed	0
HGVS	NC_000004.11:g.2061450_2061468del19
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000088670.4,