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rs113993948

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113993948(C;T)
Make rs113993948(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149486983
GeneIDS
is asnp
is mentioned by
dbSNPrs113993948
ebirs113993948
HLIrs113993948
Exacrs113993948
Varsomers113993948
Maprs113993948
PheGenIrs113993948
hapmaprs113993948
1000 genomesrs113993948
hgdprs113993948
ensemblrs113993948
gopubmedrs113993948
geneviewrs113993948
scholarrs113993948
googlers113993948
pharmgkbrs113993948
gwascentralrs113993948
openSNPrs113993948
23andMers113993948
23andMe allrs113993948
SNP Nexus

SNPshotrs113993948
SNPdbers113993948
MSV3drs113993948
GWAS Ctlgrs113993948
Max Magnitude0
ClinVar
Risk rs113993948(T;T)
Alt rs113993948(T;T)
Reference rs113993948(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148568514G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011237.4,