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rs28935479

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28935479(A;A)
Make rs28935479(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position25013139
GeneARX
is asnp
is mentioned by
dbSNPrs28935479
ebirs28935479
HLIrs28935479
Exacrs28935479
Varsomers28935479
Maprs28935479
PheGenIrs28935479
hapmaprs28935479
1000 genomesrs28935479
hgdprs28935479
ensemblrs28935479
gopubmedrs28935479
geneviewrs28935479
scholarrs28935479
googlers28935479
pharmgkbrs28935479
gwascentralrs28935479
openSNPrs28935479
23andMers28935479
23andMe allrs28935479
SNP Nexus

SNPshotrs28935479
SNPdbers28935479
MSV3drs28935479
GWAS Ctlgrs28935479
Max Magnitude0
OMIM300382
DescMENTAL RETARDATION, X-LINKED 54
Variant0014
Relatedalso


ClinVar
Risk rs28935479(A;A)
Alt rs28935479(A;A)
Reference rs28935479(G;G)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene ARX
CLNDBN Mental retardation, with or without seizures, ARX-related, X-linked
Reversed 1
HGVS NC_000023.10:g.25031256C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011950.8,