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rs113993952

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs113993952(A;T)
Make rs113993952(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149503494
GeneIDS
is asnp
is mentioned by
dbSNPrs113993952
ebirs113993952
HLIrs113993952
Exacrs113993952
Varsomers113993952
Maprs113993952
PheGenIrs113993952
hapmaprs113993952
1000 genomesrs113993952
hgdprs113993952
ensemblrs113993952
gopubmedrs113993952
geneviewrs113993952
scholarrs113993952
googlers113993952
pharmgkbrs113993952
gwascentralrs113993952
openSNPrs113993952
23andMers113993952
23andMe allrs113993952
SNP Nexus

SNPshotrs113993952
SNPdbers113993952
MSV3drs113993952
GWAS Ctlgrs113993952
Max Magnitude0
ClinVar
Risk rs113993952(T;T)
Alt rs113993952(T;T)
Reference rs113993952(A;A)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148585024T>A
CLNSRC
CLNACC RCV000205544.1,