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rs137852519

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852519(A;A)
Make rs137852519(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153868034
GeneL1CAM
is asnp
is mentioned by
dbSNPrs137852519
ebirs137852519
HLIrs137852519
Exacrs137852519
Varsomers137852519
Maprs137852519
PheGenIrs137852519
hapmaprs137852519
1000 genomesrs137852519
hgdprs137852519
ensemblrs137852519
gopubmedrs137852519
geneviewrs137852519
scholarrs137852519
googlers137852519
pharmgkbrs137852519
gwascentralrs137852519
openSNPrs137852519
23andMers137852519
23andMe allrs137852519
SNP Nexus

SNPshotrs137852519
SNPdbers137852519
MSV3drs137852519
GWAS Ctlgrs137852519
Max Magnitude0
OMIM308840
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852519(A;A)
Alt rs137852519(A;A)
Reference rs137852519(G;G)
Significance Pathogenic
Disease Spastic paraplegia 1
Variation info
Gene L1CAM
CLNDBN Spastic paraplegia 1
Reversed 1
HGVS NC_000023.10:g.153133489C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010670.3,