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rs1057518794

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGAC;AGAC) 0 common in clinvar
Make rs1057518794(-;-)
Make rs1057518794(-;AGAC)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position25004777
GeneARX
is asnp
is mentioned by
dbSNPrs1057518794
dbSNP (old)rs1057518794
ClinGenrs1057518794
ebirs1057518794
HLIrs1057518794
Exacrs1057518794
Gnomadrs1057518794
Varsomers1057518794
Maprs1057518794
PheGenIrs1057518794
Biobankrs1057518794
1000 genomesrs1057518794
hgdprs1057518794
ensemblrs1057518794
gopubmedrs1057518794
geneviewrs1057518794
scholarrs1057518794
googlers1057518794
pharmgkbrs1057518794
gwascentralrs1057518794
openSNPrs1057518794
23andMers1057518794
23andMe allrs1057518794
SNPshotrs1057518794
SNPdbers1057518794
MSV3drs1057518794
GWAS Ctlgrs1057518794
Max Magnitude0
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,