rs1057518794

Orientation

minus

Stabilized

minus

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

Make rs1057518794(-;-)

Make rs1057518794(-;AGAC)

Reference

GRCh38.p7 38.3/150

Chromosome

X

Position

25004777

Gene

ARX

is a	snp
is	mentioned by
dbSNP	rs1057518794
dbSNP (classic)	rs1057518794
ClinGen	rs1057518794
ebi	rs1057518794
HLI	rs1057518794
Exac	rs1057518794
Gnomad	rs1057518794
Varsome	rs1057518794
LitVar	rs1057518794
Map	rs1057518794
PheGenI	rs1057518794
Biobank	rs1057518794
1000 genomes	rs1057518794
hgdp	rs1057518794
ensembl	rs1057518794
geneview	rs1057518794
scholar	rs1057518794
google	rs1057518794
pharmgkb	rs1057518794
gwascentral	rs1057518794
openSNP	rs1057518794
23andMe	rs1057518794
SNPshot	rs1057518794
SNPdbe	rs1057518794
MSV3d	rs1057518794
GWAS Ctlg	rs1057518794

Max Magnitude

0

ClinVar
Risk	rs1057518794(-;-)
Alt	rs1057518794(-;-)
Reference	Rs1057518794(AGAC;AGAC)
Significance	Probable-Pathogenic
Disease	Generalized hypotonia
Variation	info
Gene	ARX
CLNDBN	Generalized hypotonia
Reversed	1
HGVS	NC_000023.10:g.25022894_25022897delGTCT
CLNSRC
CLNACC	RCV000415350.1,