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rs398123250

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123250(C;C)
Make rs398123250(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149498228
GeneIDS
is asnp
is mentioned by
dbSNPrs398123250
ebirs398123250
HLIrs398123250
Exacrs398123250
Varsomers398123250
Maprs398123250
PheGenIrs398123250
hapmaprs398123250
1000 genomesrs398123250
hgdprs398123250
ensemblrs398123250
gopubmedrs398123250
geneviewrs398123250
scholarrs398123250
googlers398123250
pharmgkbrs398123250
gwascentralrs398123250
openSNPrs398123250
23andMers398123250
23andMe allrs398123250
SNP Nexus

SNPshotrs398123250
SNPdbers398123250
MSV3drs398123250
GWAS Ctlgrs398123250
Max Magnitude0
ClinVar
Risk rs398123250(C;C)
Alt rs398123250(C;C)
Reference rs398123250(T;T)
Significance Pathogenic
Disease not provided Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN not provided Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148579759A>G
CLNSRC HGMD
CLNACC RCV000078366.3, RCV000178730.1,