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rs137852518

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852518(A;A)
Make rs137852518(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153870403
GeneL1CAM
is asnp
is mentioned by
dbSNPrs137852518
ebirs137852518
HLIrs137852518
Exacrs137852518
Varsomers137852518
Maprs137852518
PheGenIrs137852518
hapmaprs137852518
1000 genomesrs137852518
hgdprs137852518
ensemblrs137852518
gopubmedrs137852518
geneviewrs137852518
scholarrs137852518
googlers137852518
pharmgkbrs137852518
gwascentralrs137852518
openSNPrs137852518
23andMers137852518
23andMe allrs137852518
SNP Nexus

SNPshotrs137852518
SNPdbers137852518
MSV3drs137852518
GWAS Ctlgrs137852518
Max Magnitude0
OMIM308840
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852518(A;A)
Alt rs137852518(A;A)
Reference rs137852518(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.153135858C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010667.4,