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rs879253714

From SNPedia

Orientationminus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs879253714(-;-)
Make rs879253714(-;TG)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position153863517
GeneL1CAM
is asnp
is mentioned by
dbSNPrs879253714
ebirs879253714
HLIrs879253714
Exacrs879253714
Varsomers879253714
Maprs879253714
PheGenIrs879253714
hapmaprs879253714
1000 genomesrs879253714
hgdprs879253714
ensemblrs879253714
gopubmedrs879253714
geneviewrs879253714
scholarrs879253714
googlers879253714
pharmgkbrs879253714
gwascentralrs879253714
openSNPrs879253714
23andMers879253714
23andMe allrs879253714
SNP Nexus

SNPshotrs879253714
SNPdbers879253714
MSV3drs879253714
GWAS Ctlgrs879253714
Max Magnitude0
ClinVar
Risk rs879253714(;)
Alt rs879253714(;)
Reference rs879253714(TG;TG)
Significance Pathogenic
Disease Spastic paraplegia 1
Variation info
Gene L1CAM
CLNDBN Spastic paraplegia 1
Reversed 1
HGVS NC_000023.10:g.153128972_153128973delCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000010673.2,