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rs199422227

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422227(C;T)
Make rs199422227(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149483072
GeneIDS
is asnp
is mentioned by
dbSNPrs199422227
ebirs199422227
HLIrs199422227
Exacrs199422227
Varsomers199422227
Maprs199422227
PheGenIrs199422227
hapmaprs199422227
1000 genomesrs199422227
hgdprs199422227
ensemblrs199422227
gopubmedrs199422227
geneviewrs199422227
scholarrs199422227
googlers199422227
pharmgkbrs199422227
gwascentralrs199422227
openSNPrs199422227
23andMers199422227
23andMe allrs199422227
SNP Nexus

SNPshotrs199422227
SNPdbers199422227
MSV3drs199422227
GWAS Ctlgrs199422227
Max Magnitude0
ClinVar
Risk rs199422227(A,T;A,T)
Alt rs199422227(A,T;A,T)
Reference rs199422227(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148564603G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011232.3,