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rs864622776

From SNPedia

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


Make rs864622776(-;-)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position149503319
GeneIDS
is asnp
is mentioned by
dbSNPrs864622776
dbSNP (classic)rs864622776
ClinGenrs864622776
ebirs864622776
HLIrs864622776
Exacrs864622776
Gnomadrs864622776
Varsomers864622776
LitVarrs864622776
Maprs864622776
PheGenIrs864622776
Biobankrs864622776
1000 genomesrs864622776
hgdprs864622776
ensemblrs864622776
geneviewrs864622776
scholarrs864622776
googlers864622776
pharmgkbrs864622776
gwascentralrs864622776
openSNPrs864622776
23andMers864622776
SNPshotrs864622776
SNPdbers864622776
MSV3drs864622776
GWAS Ctlgrs864622776
Max Magnitude3
ClinVar
Risk rs864622776(-;-)
Alt rs864622776(-;-)
Reference Rs864622776(T;T)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148584849delA
CLNSRC
CLNACC RCV000204366.1,