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rs104894746

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894746(G;T)
Make rs104894746(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position25010274
GeneARX
is asnp
is mentioned by
dbSNPrs104894746
dbSNP (classic)rs104894746
ClinGenrs104894746
ebirs104894746
HLIrs104894746
Exacrs104894746
Gnomadrs104894746
Varsomers104894746
LitVarrs104894746
Maprs104894746
PheGenIrs104894746
Biobankrs104894746
1000 genomesrs104894746
hgdprs104894746
ensemblrs104894746
geneviewrs104894746
scholarrs104894746
googlers104894746
pharmgkbrs104894746
gwascentralrs104894746
openSNPrs104894746
23andMers104894746
SNPshotrs104894746
SNPdbers104894746
MSV3drs104894746
GWAS Ctlgrs104894746
Max Magnitude0
OMIM300382
Desc
Variant0016
Relatedalso
ClinVar
Risk rs104894746(A;A) rs104894746(T;T)
Alt rs104894746(A;A) rs104894746(T;T)
Reference Rs104894746(G;G)
Significance Pathogenic
Disease Hydranencephaly with abnormal genitalia not provided
Variation info
Gene ARX
CLNDBN Hydranencephaly with abnormal genitalia not provided
Reversed 1
HGVS NC_000023.10:g.25028391C>A; NC_000023.10:g.25028391C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011952.18, RCV000442107.1,