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rs398123248

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123248(A;A)
Make rs398123248(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149482891
GeneIDS
is asnp
is mentioned by
dbSNPrs398123248
ebirs398123248
HLIrs398123248
Exacrs398123248
Varsomers398123248
Maprs398123248
PheGenIrs398123248
hapmaprs398123248
1000 genomesrs398123248
hgdprs398123248
ensemblrs398123248
gopubmedrs398123248
geneviewrs398123248
scholarrs398123248
googlers398123248
pharmgkbrs398123248
gwascentralrs398123248
openSNPrs398123248
23andMers398123248
23andMe allrs398123248
SNP Nexus

SNPshotrs398123248
SNPdbers398123248
MSV3drs398123248
GWAS Ctlgrs398123248
Max Magnitude0
ClinVar
Risk rs398123248(A;A)
Alt rs398123248(A;A)
Reference rs398123248(T;T)
Significance Probable-Pathogenic
Disease not provided Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN not provided Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148564422A>T
CLNSRC ClinVar Emory University
CLNACC RCV000078362.3, RCV000180470.1,