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rs193302905

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193302905(A;G)
Make rs193302905(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149498129
GeneIDS
is asnp
is mentioned by
dbSNPrs193302905
dbSNP (classic)rs193302905
ClinGenrs193302905
ebirs193302905
HLIrs193302905
Exacrs193302905
Gnomadrs193302905
Varsomers193302905
LitVarrs193302905
Maprs193302905
PheGenIrs193302905
Biobankrs193302905
1000 genomesrs193302905
hgdprs193302905
ensemblrs193302905
geneviewrs193302905
scholarrs193302905
googlers193302905
pharmgkbrs193302905
gwascentralrs193302905
openSNPrs193302905
23andMers193302905
SNPshotrs193302905
SNPdbers193302905
MSV3drs193302905
GWAS Ctlgrs193302905
Max Magnitude0
ClinVar
Risk rs193302905(G;G)
Alt rs193302905(G;G)
Reference Rs193302905(A;A)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148579660T>C
CLNSRC
CLNACC