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rs879253713

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs879253713(A;C)
Make rs879253713(C;C)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position153865838
GeneL1CAM
is asnp
is mentioned by
dbSNPrs879253713
ebirs879253713
HLIrs879253713
Exacrs879253713
Varsomers879253713
Maprs879253713
PheGenIrs879253713
hapmaprs879253713
1000 genomesrs879253713
hgdprs879253713
ensemblrs879253713
gopubmedrs879253713
geneviewrs879253713
scholarrs879253713
googlers879253713
pharmgkbrs879253713
gwascentralrs879253713
openSNPrs879253713
23andMers879253713
23andMe allrs879253713
SNP Nexus

SNPshotrs879253713
SNPdbers879253713
MSV3drs879253713
GWAS Ctlgrs879253713
Max Magnitude0
ClinVar
Risk rs879253713(C;C)
Alt rs879253713(C;C)
Reference rs879253713(A;A)
Significance Pathogenic
Disease X-linked hydrocephalus syndrome
Variation info
Gene L1CAM
CLNDBN X-linked hydrocephalus syndrome
Reversed 1
HGVS NC_000023.10:g.153131293T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010666.2,