rs387906493

Orientation

minus

Stabilized

minus

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

Make rs387906493(-;GGGCCGCCGCGGCAGCCGCGGCCG)

Make rs387906493(GGGCCGCCGCGGCAGCCGCGGCCG;GGGCCGCCGCGGCAGCCGCGGCCG)

Reference

GRCh38 38.1/141

Chromosome

X

Position

25013543

Gene

ARX

is a	snp
is	mentioned by
dbSNP	rs387906493
dbSNP (classic)	rs387906493
ClinGen	rs387906493
ebi	rs387906493
HLI	rs387906493
Exac	rs387906493
Gnomad	rs387906493
Varsome	rs387906493
LitVar	rs387906493
Map	rs387906493
PheGenI	rs387906493
Biobank	rs387906493
1000 genomes	rs387906493
hgdp	rs387906493
ensembl	rs387906493
geneview	rs387906493
scholar	rs387906493
google	rs387906493
pharmgkb	rs387906493
gwascentral	rs387906493
openSNP	rs387906493
23andMe	rs387906493
SNPshot	rs387906493
SNPdbe	rs387906493
MSV3d	rs387906493
GWAS Ctlg	rs387906493

Max Magnitude

0

ClinVar
Risk	rs387906493(GGGCCGCCGCGGCAGCCGCGGCCG;GGGCCGCCGCGGCAGCCGCGGCCG)
Alt	rs387906493(GGGCCGCCGCGGCAGCCGCGGCCG;GGGCCGCCGCGGCAGCCGCGGCCG)
Reference	Rs387906493(-;-)
Significance	Pathogenic
Disease	Epileptic encephalopathy Mental retardation Partington X-linked mental retardation syndrome not provided
Variation	info
Gene	ARX
CLNDBN	Epileptic encephalopathy, early infantile, 1 Mental retardation, with or without seizures, ARX-related, X-linked Partington X-linked mental retardation syndrome not provided
Reversed	1
HGVS	NC_000023.10:g.25031661_25031684dup24
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000011937.9, RCV000011938.9, RCV000033212.17, RCV000487265.1,