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rs193302907

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193302907(G;T)
Make rs193302907(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149496405
GeneIDS
is asnp
is mentioned by
dbSNPrs193302907
dbSNP (classic)rs193302907
ClinGenrs193302907
ebirs193302907
HLIrs193302907
Exacrs193302907
Gnomadrs193302907
Varsomers193302907
LitVarrs193302907
Maprs193302907
PheGenIrs193302907
Biobankrs193302907
1000 genomesrs193302907
hgdprs193302907
ensemblrs193302907
geneviewrs193302907
scholarrs193302907
googlers193302907
pharmgkbrs193302907
gwascentralrs193302907
openSNPrs193302907
23andMers193302907
SNPshotrs193302907
SNPdbers193302907
MSV3drs193302907
GWAS Ctlgrs193302907
Max Magnitude0
ClinVar
Risk rs193302907(T;T)
Alt rs193302907(T;T)
Reference Rs193302907(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148577936C>A
CLNSRC
CLNACC RCV000204905.1,