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rs398123249

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398123249(C;T)
Make rs398123249(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149503468
GeneIDS
is asnp
is mentioned by
dbSNPrs398123249
ebirs398123249
HLIrs398123249
Exacrs398123249
Varsomers398123249
Maprs398123249
PheGenIrs398123249
hapmaprs398123249
1000 genomesrs398123249
hgdprs398123249
ensemblrs398123249
gopubmedrs398123249
geneviewrs398123249
scholarrs398123249
googlers398123249
pharmgkbrs398123249
gwascentralrs398123249
openSNPrs398123249
23andMers398123249
23andMe allrs398123249
SNP Nexus

SNPshotrs398123249
SNPdbers398123249
MSV3drs398123249
GWAS Ctlgrs398123249
Max Magnitude0
ClinVar
Risk rs398123249(T;T)
Alt rs398123249(T;T)
Reference rs398123249(C;C)
Significance Pathogenic
Disease not provided Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN not provided Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148584998G>A
CLNSRC HGMD
CLNACC RCV000078364.3, RCV000177014.1,