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rs193302906

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193302906(A;A)
Make rs193302906(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149487072
GeneIDS
is asnp
is mentioned by
dbSNPrs193302906
dbSNP (classic)rs193302906
ClinGenrs193302906
ebirs193302906
HLIrs193302906
Exacrs193302906
Gnomadrs193302906
Varsomers193302906
LitVarrs193302906
Maprs193302906
PheGenIrs193302906
Biobankrs193302906
1000 genomesrs193302906
hgdprs193302906
ensemblrs193302906
geneviewrs193302906
scholarrs193302906
googlers193302906
pharmgkbrs193302906
gwascentralrs193302906
openSNPrs193302906
23andMers193302906
SNPshotrs193302906
SNPdbers193302906
MSV3drs193302906
GWAS Ctlgrs193302906
Max Magnitude0
ClinVar
Risk rs193302906(A;A)
Alt rs193302906(A;A)
Reference Rs193302906(T;T)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148568603A>T
CLNSRC
CLNACC RCV000204392.1,