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rs879253715

From SNPedia

Orientationminus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs879253715(-;-)
Make rs879253715(-;TG)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position153866658
GeneL1CAM
is asnp
is mentioned by
dbSNPrs879253715
ebirs879253715
HLIrs879253715
Exacrs879253715
Varsomers879253715
Maprs879253715
PheGenIrs879253715
hapmaprs879253715
1000 genomesrs879253715
hgdprs879253715
ensemblrs879253715
gopubmedrs879253715
geneviewrs879253715
scholarrs879253715
googlers879253715
pharmgkbrs879253715
gwascentralrs879253715
openSNPrs879253715
23andMers879253715
23andMe allrs879253715
SNP Nexus

SNPshotrs879253715
SNPdbers879253715
MSV3drs879253715
GWAS Ctlgrs879253715
Max Magnitude0
ClinVar
Risk rs879253715(;)
Alt rs879253715(;)
Reference rs879253715(TG;TG)
Significance Pathogenic
Disease Hydrocephalus
Variation info
Gene L1CAM
CLNDBN Hydrocephalus, X-linked, with hirschsprung disease
Reversed 1
HGVS NC_000023.10:g.153132113_153132114delCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000010678.2,