rs587783198

Orientation

minus

Stabilized

minus

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

Make rs587783198(-;-)

Make rs587783198(-;GGC)

Make rs587783198(GGC;GGC)

Reference

GRCh38.p2 38.2/147

Chromosome

X

Position

25013659

Gene

ARX

is a	snp
is	mentioned by
dbSNP	rs587783198
dbSNP (classic)	rs587783198
ClinGen	rs587783198
ebi	rs587783198
HLI	rs587783198
Exac	rs587783198
Gnomad	rs587783198
Varsome	rs587783198
LitVar	rs587783198
Map	rs587783198
PheGenI	rs587783198
Biobank	rs587783198
1000 genomes	rs587783198
hgdp	rs587783198
ensembl	rs587783198
geneview	rs587783198
scholar	rs587783198
google	rs587783198
pharmgkb	rs587783198
gwascentral	rs587783198
openSNP	rs587783198
23andMe	rs587783198
SNPshot	rs587783198
SNPdbe	rs587783198
MSV3d	rs587783198
GWAS Ctlg	rs587783198

Max Magnitude

0

ClinVar
Risk	rs587783198(GGCGGCGGCGGCGGCGGCGGCGGCA;GGCGGCGGCGGCGGCGGCGGCGGCA) rs587783198(GGCGGCGGCGGCGGCGGCGGCA;GGCGGCGGCGGCGGCGGCGGCA) rs587783198(GGCGGCGGCA;GGCGGCGGCA) rs587783198(GGCA;GGCA)
Alt	rs587783198(GGCGGCGGCGGCGGCGGCGGCGGCA;GGCGGCGGCGGCGGCGGCGGCGGCA) rs587783198(GGCGGCGGCGGCGGCGGCGGCA;GGCGGCGGCGGCGGCGGCGGCA) rs587783198(GGCGGCGGCA;GGCGGCGGCA) rs587783198(GGCA;GGCA)
Reference	Rs587783198(A;A)
Significance	Pathogenic
Disease	not provided not specified Epileptic encephalopathy Mental retardation Lissencephaly 2
Variation	info
Gene	ARX
CLNDBN	not provided not specified Epileptic encephalopathy, early infantile, 1 Mental retardation, with or without seizures, ARX-related, X-linked Lissencephaly 2, X-linked
Reversed	1
HGVS	NC_000023.10:g.25031776_25031777insGCCGCCGCC; NC_000023.10:g.25031777_25031779dupGCC; NC_000023.10:g.25031777_25031797dup21; NC_000023.10:g.25031777_25031800dup24
CLNSRC
CLNACC	RCV000175970.1, RCV000145054.3, RCV000231610.1, RCV000193540.1, RCV000192640.1,