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rs137852526

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852526(C;T)
Make rs137852526(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153870475
GeneL1CAM
is asnp
is mentioned by
dbSNPrs137852526
ebirs137852526
HLIrs137852526
Exacrs137852526
Varsomers137852526
Maprs137852526
PheGenIrs137852526
hapmaprs137852526
1000 genomesrs137852526
hgdprs137852526
ensemblrs137852526
gopubmedrs137852526
geneviewrs137852526
scholarrs137852526
googlers137852526
pharmgkbrs137852526
gwascentralrs137852526
openSNPrs137852526
23andMers137852526
23andMe allrs137852526
SNP Nexus

SNPshotrs137852526
SNPdbers137852526
MSV3drs137852526
GWAS Ctlgrs137852526
Max Magnitude0
OMIM308840
Desc
Variant0017
Relatedalso
ClinVar
Risk rs137852526(T;T)
Alt rs137852526(T;T)
Reference rs137852526(C;C)
Significance Pathogenic
Disease X-linked hydrocephalus syndrome Corpus callosum
Variation info
Gene L1CAM
CLNDBN X-linked hydrocephalus syndrome Corpus callosum, partial agenesis of, X-linked
Reversed 1
HGVS NC_000023.10:g.153135930G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010683.2, RCV000010684.2,