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rs104894782

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894782(C;G)
Make rs104894782(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position111401087
GeneDCX
is asnp
is mentioned by
dbSNPrs104894782
ebirs104894782
HLIrs104894782
Exacrs104894782
Varsomers104894782
Maprs104894782
PheGenIrs104894782
hapmaprs104894782
1000 genomesrs104894782
hgdprs104894782
ensemblrs104894782
gopubmedrs104894782
geneviewrs104894782
scholarrs104894782
googlers104894782
pharmgkbrs104894782
gwascentralrs104894782
openSNPrs104894782
23andMers104894782
23andMe allrs104894782
SNP Nexus

SNPshotrs104894782
SNPdbers104894782
MSV3drs104894782
GWAS Ctlgrs104894782
Max Magnitude0
OMIM300121
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894782(A,G;A,G)
Alt rs104894782(A,G;A,G)
Reference rs104894782(C;C)
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.110644315G>C; NC_000023.10:g.110644315G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012364.22, RCV000012365.16, RCV000145873.1,