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rs137852523

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852523(G;G)
Make rs137852523(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position153870948
GeneL1CAM
is asnp
is mentioned by
dbSNPrs137852523
dbSNP (classic)rs137852523
ClinGenrs137852523
ebirs137852523
HLIrs137852523
Exacrs137852523
Gnomadrs137852523
Varsomers137852523
LitVarrs137852523
Maprs137852523
PheGenIrs137852523
Biobankrs137852523
1000 genomesrs137852523
hgdprs137852523
ensemblrs137852523
geneviewrs137852523
scholarrs137852523
googlers137852523
pharmgkbrs137852523
gwascentralrs137852523
openSNPrs137852523
23andMers137852523
SNPshotrs137852523
SNPdbers137852523
MSV3drs137852523
GWAS Ctlgrs137852523
Max Magnitude0
OMIM308840
Desc
Variant0010
Relatedalso
ClinVar
Risk rs137852523(G;G)
Alt rs137852523(G;G)
Reference Rs137852523(T;T)
Significance Pathogenic
Disease Spastic paraplegia 1
Variation info
Gene L1CAM
CLNDBN Spastic paraplegia 1
Reversed 1
HGVS NC_000023.10:g.153136403A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010676.3,