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rs137852521

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852521(A;A)
Make rs137852521(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153870933
GeneL1CAM
is asnp
is mentioned by
dbSNPrs137852521
ebirs137852521
HLIrs137852521
Exacrs137852521
Varsomers137852521
Maprs137852521
PheGenIrs137852521
hapmaprs137852521
1000 genomesrs137852521
hgdprs137852521
ensemblrs137852521
gopubmedrs137852521
geneviewrs137852521
scholarrs137852521
googlers137852521
pharmgkbrs137852521
gwascentralrs137852521
openSNPrs137852521
23andMers137852521
23andMe allrs137852521
SNP Nexus

SNPshotrs137852521
SNPdbers137852521
MSV3drs137852521
GWAS Ctlgrs137852521
Max Magnitude0
OMIM308840
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852521(A;A)
Alt rs137852521(A;A)
Reference rs137852521(G;G)
Significance Pathogenic
Disease X-linked hydrocephalus syndrome
Variation info
Gene L1CAM
CLNDBN X-linked hydrocephalus syndrome
Reversed 1
HGVS NC_000023.10:g.153136388C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010672.4,