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rs199422230

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199422230(A;A)
Make rs199422230(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149482974
GeneIDS
is asnp
is mentioned by
dbSNPrs199422230
ebirs199422230
HLIrs199422230
Exacrs199422230
Varsomers199422230
Maprs199422230
PheGenIrs199422230
hapmaprs199422230
1000 genomesrs199422230
hgdprs199422230
ensemblrs199422230
gopubmedrs199422230
geneviewrs199422230
scholarrs199422230
googlers199422230
pharmgkbrs199422230
gwascentralrs199422230
openSNPrs199422230
23andMers199422230
23andMe allrs199422230
SNP Nexus

SNPshotrs199422230
SNPdbers199422230
MSV3drs199422230
GWAS Ctlgrs199422230
Max Magnitude0
ClinVar
Risk rs199422230(A;A)
Alt rs199422230(A;A)
Reference rs199422230(G;G)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148564505C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011241.6,