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rs193302908

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193302908(A;A)
Make rs193302908(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149501031
GeneIDS
is asnp
is mentioned by
dbSNPrs193302908
dbSNP (classic)rs193302908
ClinGenrs193302908
ebirs193302908
HLIrs193302908
Exacrs193302908
Gnomadrs193302908
Varsomers193302908
LitVarrs193302908
Maprs193302908
PheGenIrs193302908
Biobankrs193302908
1000 genomesrs193302908
hgdprs193302908
ensemblrs193302908
geneviewrs193302908
scholarrs193302908
googlers193302908
pharmgkbrs193302908
gwascentralrs193302908
openSNPrs193302908
23andMers193302908
SNPshotrs193302908
SNPdbers193302908
MSV3drs193302908
GWAS Ctlgrs193302908
Max Magnitude0
ClinVar
Risk rs193302908(A;A)
Alt rs193302908(A;A)
Reference Rs193302908(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148582562G>T
CLNSRC
CLNACC RCV000204759.1,