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rs104894745

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894745(A;A)
Make rs104894745(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position25012997
GeneARX
is asnp
is mentioned by
dbSNPrs104894745
ebirs104894745
HLIrs104894745
Exacrs104894745
Varsomers104894745
Maprs104894745
PheGenIrs104894745
hapmaprs104894745
1000 genomesrs104894745
hgdprs104894745
ensemblrs104894745
gopubmedrs104894745
geneviewrs104894745
scholarrs104894745
googlers104894745
pharmgkbrs104894745
gwascentralrs104894745
openSNPrs104894745
23andMers104894745
23andMe allrs104894745
SNP Nexus

SNPshotrs104894745
SNPdbers104894745
MSV3drs104894745
GWAS Ctlgrs104894745
Merged fromRs28936078
Max Magnitude0
OMIM300382
Desc
Variant0015
Relatedalso
ClinVar
Risk rs104894745(A,G;A,G)
Alt rs104894745(A,G;A,G)
Reference rs104894745(C;C)
Significance Pathogenic
Disease epileptic encephalopathy Proud Levine Carpenter syndrome not provided
Variation info
Gene ARX
CLNDBN epileptic encephalopathy, early infanitle, 1 Proud Levine Carpenter syndrome not provided
Reversed 1
HGVS NC_000023.10:g.25031114G>C; NC_000023.10:g.25031114G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000145067.1, RCV000011951.8, RCV000145066.1,