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rs113993951

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs113993951(A;T)
Make rs113993951(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149483005
GeneIDS
is asnp
is mentioned by
dbSNPrs113993951
dbSNP (classic)rs113993951
ClinGenrs113993951
ebirs113993951
HLIrs113993951
Exacrs113993951
Gnomadrs113993951
Varsomers113993951
LitVarrs113993951
Maprs113993951
PheGenIrs113993951
Biobankrs113993951
1000 genomesrs113993951
hgdprs113993951
ensemblrs113993951
geneviewrs113993951
scholarrs113993951
googlers113993951
pharmgkbrs113993951
gwascentralrs113993951
openSNPrs113993951
23andMers113993951
SNPshotrs113993951
SNPdbers113993951
MSV3drs113993951
GWAS Ctlgrs113993951
Max Magnitude0
ClinVar
Risk rs113993951(T;T)
Alt rs113993951(T;T)
Reference Rs113993951(A;A)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148564536T>A
CLNSRC
CLNACC RCV000204179.1,