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rs199422229

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199422229(G;G)
Make rs199422229(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149483135
GeneIDS
is asnp
is mentioned by
dbSNPrs199422229
dbSNP (old)rs199422229
ClinGenrs199422229
ebirs199422229
HLIrs199422229
Exacrs199422229
Varsomers199422229
Maprs199422229
PheGenIrs199422229
Biobankrs199422229
1000 genomesrs199422229
hgdprs199422229
ensemblrs199422229
gopubmedrs199422229
geneviewrs199422229
scholarrs199422229
googlers199422229
pharmgkbrs199422229
gwascentralrs199422229
openSNPrs199422229
23andMers199422229
23andMe allrs199422229
SNP Nexus

SNPshotrs199422229
SNPdbers199422229
MSV3drs199422229
GWAS Ctlgrs199422229
Merged fromRs28937310
Max Magnitude0
ClinVar
Risk rs199422229(G;G)
Alt rs199422229(G;G)
Reference Rs199422229(T;T)
Significance Pathogenic
Disease Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148564666A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011239.3,