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rs864622771

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs864622771(C;C)
Make rs864622771(C;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position149487089
GeneIDS
is asnp
is mentioned by
dbSNPrs864622771
dbSNP (classic)rs864622771
ClinGenrs864622771
ebirs864622771
HLIrs864622771
Exacrs864622771
Gnomadrs864622771
Varsomers864622771
LitVarrs864622771
Maprs864622771
PheGenIrs864622771
Biobankrs864622771
1000 genomesrs864622771
hgdprs864622771
ensemblrs864622771
geneviewrs864622771
scholarrs864622771
googlers864622771
pharmgkbrs864622771
gwascentralrs864622771
openSNPrs864622771
23andMers864622771
SNPshotrs864622771
SNPdbers864622771
MSV3drs864622771
GWAS Ctlgrs864622771
Max Magnitude0
ClinVar
Risk rs864622771(C;C)
Alt rs864622771(C;C)
Reference Rs864622771(T;T)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148568620A>G
CLNSRC
CLNACC RCV000206113.1,