Have questions? Visit https://www.reddit.com/r/SNPedia

rs879253716

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879253716(A;A)
Make rs879253716(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position153867795
GeneL1CAM
is asnp
is mentioned by
dbSNPrs879253716
ebirs879253716
HLIrs879253716
Exacrs879253716
Varsomers879253716
Maprs879253716
PheGenIrs879253716
hapmaprs879253716
1000 genomesrs879253716
hgdprs879253716
ensemblrs879253716
gopubmedrs879253716
geneviewrs879253716
scholarrs879253716
googlers879253716
pharmgkbrs879253716
gwascentralrs879253716
openSNPrs879253716
23andMers879253716
23andMe allrs879253716
SNP Nexus

SNPshotrs879253716
SNPdbers879253716
MSV3drs879253716
GWAS Ctlgrs879253716
Max Magnitude0
ClinVar
Risk rs879253716(A;A)
Alt rs879253716(A;A)
Reference rs879253716(G;G)
Significance Pathogenic
Disease Hydrocephalus
Variation info
Gene L1CAM
CLNDBN Hydrocephalus, X-linked, with hirschsprung disease
Reversed 1
HGVS NC_000023.10:g.153133250C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010681.2,