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rs137852522

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852522(C;T)
Make rs137852522(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153862856
GeneL1CAM
is asnp
is mentioned by
dbSNPrs137852522
ebirs137852522
HLIrs137852522
Exacrs137852522
Varsomers137852522
Maprs137852522
PheGenIrs137852522
hapmaprs137852522
1000 genomesrs137852522
hgdprs137852522
ensemblrs137852522
gopubmedrs137852522
geneviewrs137852522
scholarrs137852522
googlers137852522
pharmgkbrs137852522
gwascentralrs137852522
openSNPrs137852522
23andMers137852522
23andMe allrs137852522
SNP Nexus

SNPshotrs137852522
SNPdbers137852522
MSV3drs137852522
GWAS Ctlgrs137852522
Max Magnitude0
OMIM308840
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137852522(T;T)
Alt rs137852522(T;T)
Reference rs137852522(C;C)
Significance Pathogenic
Disease X-linked hydrocephalus syndrome Spastic paraplegia 1
Variation info
Gene L1CAM
CLNDBN X-linked hydrocephalus syndrome Spastic paraplegia 1
Reversed 1
HGVS NC_000023.10:g.153128311G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010674.3, RCV000010675.2,