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rs56030372

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs56030372(A;A)
Make rs56030372(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position111401108
GeneDCX
is asnp
is mentioned by
dbSNPrs56030372
ebirs56030372
HLIrs56030372
Exacrs56030372
Varsomers56030372
Maprs56030372
PheGenIrs56030372
hapmaprs56030372
1000 genomesrs56030372
hgdprs56030372
ensemblrs56030372
gopubmedrs56030372
geneviewrs56030372
scholarrs56030372
googlers56030372
pharmgkbrs56030372
gwascentralrs56030372
openSNPrs56030372
23andMers56030372
23andMe allrs56030372
SNP Nexus

SNPshotrs56030372
SNPdbers56030372
MSV3drs56030372
GWAS Ctlgrs56030372
Merged fromRs28935172
Max Magnitude0
OMIM300121
Desc
Variant0013
Relatedalso
ClinVar
Risk rs56030372(A;A)
Alt rs56030372(A;A)
Reference rs56030372(G;G)
Significance Pathogenic
Disease Lissencephaly Subcortical laminar heterotopia Heterotopia
Variation info
Gene DCX
CLNDBN Lissencephaly, X-linked Subcortical laminar heterotopia, X-linked Heterotopia
Reversed 1
HGVS NC_000023.10:g.110644336C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012373.14, RCV000012374.14, RCV000145869.1,