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rs104894740

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894740(C;T)
Make rs104894740(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position25010262
GeneARX
is asnp
is mentioned by
dbSNPrs104894740
dbSNP (classic)rs104894740
ClinGenrs104894740
ebirs104894740
HLIrs104894740
Exacrs104894740
Gnomadrs104894740
Varsomers104894740
LitVarrs104894740
Maprs104894740
PheGenIrs104894740
Biobankrs104894740
1000 genomesrs104894740
hgdprs104894740
ensemblrs104894740
geneviewrs104894740
scholarrs104894740
googlers104894740
pharmgkbrs104894740
gwascentralrs104894740
openSNPrs104894740
23andMers104894740
SNPshotrs104894740
SNPdbers104894740
MSV3drs104894740
GWAS Ctlgrs104894740
Max Magnitude0
OMIM300382
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894740(T;T)
Alt rs104894740(T;T)
Reference Rs104894740(C;C)
Significance Pathogenic
Disease Lissencephaly 2
Variation info
Gene ARX
CLNDBN Lissencephaly 2, X-linked
Reversed 1
HGVS NC_000023.10:g.25028379G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011944.6,