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rs398123251

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs398123251(-;-)
Make rs398123251(-;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149498218
GeneIDS
is asnp
is mentioned by
dbSNPrs398123251
dbSNP (classic)rs398123251
ClinGenrs398123251
ebirs398123251
HLIrs398123251
Exacrs398123251
Gnomadrs398123251
Varsomers398123251
LitVarrs398123251
Maprs398123251
PheGenIrs398123251
Biobankrs398123251
1000 genomesrs398123251
hgdprs398123251
ensemblrs398123251
geneviewrs398123251
scholarrs398123251
googlers398123251
pharmgkbrs398123251
gwascentralrs398123251
openSNPrs398123251
23andMers398123251
SNPshotrs398123251
SNPdbers398123251
MSV3drs398123251
GWAS Ctlgrs398123251
Max Magnitude0
ClinVar
Risk rs398123251(-;-)
Alt rs398123251(-;-)
Reference Rs398123251(A;A)
Significance Pathogenic
Disease not provided Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN not provided Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148579749delT
CLNSRC ClinVar
CLNACC RCV000078367.3, RCV000178731.1,