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rs113993954

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113993954(A;A)
Make rs113993954(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149504185
GeneIDS
is asnp
is mentioned by
dbSNPrs113993954
dbSNP (classic)rs113993954
ClinGenrs113993954
ebirs113993954
HLIrs113993954
Exacrs113993954
Gnomadrs113993954
Varsomers113993954
LitVarrs113993954
Maprs113993954
PheGenIrs113993954
Biobankrs113993954
1000 genomesrs113993954
hgdprs113993954
ensemblrs113993954
geneviewrs113993954
scholarrs113993954
googlers113993954
pharmgkbrs113993954
gwascentralrs113993954
openSNPrs113993954
23andMers113993954
SNPshotrs113993954
SNPdbers113993954
MSV3drs113993954
GWAS Ctlgrs113993954
Max Magnitude0
ClinVar
Risk rs113993954(A;A)
Alt rs113993954(A;A)
Reference Rs113993954(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148585715C>T
CLNSRC
CLNACC