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rs113993949

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Carrier of a MPS II mutation; note X-linkage
(G;G) 0 common in clinvar


Make rs113993949(A;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149503477
GeneIDS
is asnp
is mentioned by
dbSNPrs113993949
dbSNP (classic)rs113993949
ClinGenrs113993949
ebirs113993949
HLIrs113993949
Exacrs113993949
Gnomadrs113993949
Varsomers113993949
LitVarrs113993949
Maprs113993949
PheGenIrs113993949
Biobankrs113993949
1000 genomesrs113993949
hgdprs113993949
ensemblrs113993949
geneviewrs113993949
scholarrs113993949
googlers113993949
pharmgkbrs113993949
gwascentralrs113993949
openSNPrs113993949
23andMers113993949
SNPshotrs113993949
SNPdbers113993949
MSV3drs113993949
GWAS Ctlgrs113993949
Max Magnitude3
ClinVar
Risk rs113993949(A;A)
Alt rs113993949(A;A)
Reference Rs113993949(G;G)
Significance Pathogenic
Disease not provided Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN not provided Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148585007C>T
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000078363.3, RCV000177016.1,