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rs111033612

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033612(A;A)
Make rs111033612(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position25013000
GeneARX
is asnp
is mentioned by
dbSNPrs111033612
dbSNP (classic)rs111033612
ClinGenrs111033612
ebirs111033612
HLIrs111033612
Exacrs111033612
Gnomadrs111033612
Varsomers111033612
LitVarrs111033612
Maprs111033612
PheGenIrs111033612
Biobankrs111033612
1000 genomesrs111033612
hgdprs111033612
ensemblrs111033612
geneviewrs111033612
scholarrs111033612
googlers111033612
pharmgkbrs111033612
gwascentralrs111033612
openSNPrs111033612
23andMers111033612
SNPshotrs111033612
SNPdbers111033612
MSV3drs111033612
GWAS Ctlgrs111033612
Merged fromRs28936075
Max Magnitude0
OMIM300382
Desc
Variant0007
Relatedalso
ClinVar
Risk rs111033612(A;A) rs111033612(T;T)
Alt rs111033612(A;A) rs111033612(T;T)
Reference Rs111033612(G;G)
Significance Pathogenic
Disease Lissencephaly 2 not provided
Variation info
Gene ARX
CLNDBN Lissencephaly 2, X-linked not provided
Reversed 1
HGVS NC_000023.10:g.25031117C>A; NC_000023.10:g.25031117C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000145065.1, RCV000011943.6, RCV000145064.1,