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rs193302913

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs193302913(-;-)
Make rs193302913(-;CT)
ReferenceGRCh38 38.1/142
ChromosomeX
Position149490411
GeneIDS
is asnp
is mentioned by
dbSNPrs193302913
dbSNP (classic)rs193302913
ClinGenrs193302913
ebirs193302913
HLIrs193302913
Exacrs193302913
Gnomadrs193302913
Varsomers193302913
LitVarrs193302913
Maprs193302913
PheGenIrs193302913
Biobankrs193302913
1000 genomesrs193302913
hgdprs193302913
ensemblrs193302913
geneviewrs193302913
scholarrs193302913
googlers193302913
pharmgkbrs193302913
gwascentralrs193302913
openSNPrs193302913
23andMers193302913
SNPshotrs193302913
SNPdbers193302913
MSV3drs193302913
GWAS Ctlgrs193302913
Max Magnitude0
ClinVar
Risk rs193302913(-;-)
Alt rs193302913(-;-)
Reference Rs193302913(CT;CT)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148571942_148571943delAG
CLNSRC
CLNACC RCV000205483.1,