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rs137852520

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852520(A;A)
Make rs137852520(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153868866
GeneL1CAM
is asnp
is mentioned by
dbSNPrs137852520
ebirs137852520
HLIrs137852520
Exacrs137852520
Varsomers137852520
Maprs137852520
PheGenIrs137852520
hapmaprs137852520
1000 genomesrs137852520
hgdprs137852520
ensemblrs137852520
gopubmedrs137852520
geneviewrs137852520
scholarrs137852520
googlers137852520
pharmgkbrs137852520
gwascentralrs137852520
openSNPrs137852520
23andMers137852520
23andMe allrs137852520
SNP Nexus

SNPshotrs137852520
SNPdbers137852520
MSV3drs137852520
GWAS Ctlgrs137852520
Max Magnitude0
OMIM308840
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137852520(A;A)
Alt rs137852520(A;A)
Reference rs137852520(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.153134321C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010671.3,