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rs879253717

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs879253717(C;T)
Make rs879253717(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position153864893
GeneL1CAM
is asnp
is mentioned by
dbSNPrs879253717
ebirs879253717
HLIrs879253717
Exacrs879253717
Varsomers879253717
Maprs879253717
PheGenIrs879253717
hapmaprs879253717
1000 genomesrs879253717
hgdprs879253717
ensemblrs879253717
gopubmedrs879253717
geneviewrs879253717
scholarrs879253717
googlers879253717
pharmgkbrs879253717
gwascentralrs879253717
openSNPrs879253717
23andMers879253717
23andMe allrs879253717
SNP Nexus

SNPshotrs879253717
SNPdbers879253717
MSV3drs879253717
GWAS Ctlgrs879253717
Max Magnitude0
ClinVar
Risk rs879253717(T;T)
Alt rs879253717(T;T)
Reference rs879253717(C;C)
Significance Pathogenic
Disease Hydrocephalus
Variation info
Gene L1CAM
CLNDBN Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction
Reversed 1
HGVS NC_000023.10:g.153130348G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010682.3,