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rs193302909

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193302909(A;G)
Make rs193302909(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149504210
GeneIDS
is asnp
is mentioned by
dbSNPrs193302909
dbSNP (classic)rs193302909
ClinGenrs193302909
ebirs193302909
HLIrs193302909
Exacrs193302909
Gnomadrs193302909
Varsomers193302909
LitVarrs193302909
Maprs193302909
PheGenIrs193302909
Biobankrs193302909
1000 genomesrs193302909
hgdprs193302909
ensemblrs193302909
geneviewrs193302909
scholarrs193302909
googlers193302909
pharmgkbrs193302909
gwascentralrs193302909
openSNPrs193302909
23andMers193302909
SNPshotrs193302909
SNPdbers193302909
MSV3drs193302909
GWAS Ctlgrs193302909
Max Magnitude0
ClinVar
Risk rs193302909(G;G)
Alt rs193302909(G;G)
Reference Rs193302909(A;A)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148585740T>C
CLNSRC
CLNACC