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rs113993953

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs113993953(A;T)
Make rs113993953(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149490436
GeneIDS
is asnp
is mentioned by
dbSNPrs113993953
ebirs113993953
HLIrs113993953
Exacrs113993953
Varsomers113993953
Maprs113993953
PheGenIrs113993953
hapmaprs113993953
1000 genomesrs113993953
hgdprs113993953
ensemblrs113993953
gopubmedrs113993953
geneviewrs113993953
scholarrs113993953
googlers113993953
pharmgkbrs113993953
gwascentralrs113993953
openSNPrs113993953
23andMers113993953
23andMe allrs113993953
SNP Nexus

SNPshotrs113993953
SNPdbers113993953
MSV3drs113993953
GWAS Ctlgrs113993953
Max Magnitude0
ClinVar
Risk rs113993953(G,T;G,T)
Alt rs113993953(G,T;G,T)
Reference rs113993953(A;A)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148571967T>A
CLNSRC
CLNACC RCV000203709.1,