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rs879253724

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879253724(C;C)
Make rs879253724(C;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position153863550
GeneL1CAM
is asnp
is mentioned by
dbSNPrs879253724
dbSNP (classic)rs879253724
ClinGenrs879253724
ebirs879253724
HLIrs879253724
Exacrs879253724
Gnomadrs879253724
Varsomers879253724
LitVarrs879253724
Maprs879253724
PheGenIrs879253724
Biobankrs879253724
1000 genomesrs879253724
hgdprs879253724
ensemblrs879253724
geneviewrs879253724
scholarrs879253724
googlers879253724
pharmgkbrs879253724
gwascentralrs879253724
openSNPrs879253724
23andMers879253724
SNPshotrs879253724
SNPdbers879253724
MSV3drs879253724
GWAS Ctlgrs879253724
Max Magnitude0
ClinVar
Risk rs879253724(C;C)
Alt rs879253724(C;C)
Reference Rs879253724(G;G)
Significance Pathogenic
Disease X-linked hydrocephalus syndrome
Variation info
Gene L1CAM
CLNDBN X-linked hydrocephalus syndrome
Reversed 1
HGVS NC_000023.10:g.153129005C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022879.3,