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rs398123247

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123247(C;C)
Make rs398123247(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position149505034
GeneIDS
is asnp
is mentioned by
dbSNPrs398123247
ebirs398123247
HLIrs398123247
Exacrs398123247
Varsomers398123247
Maprs398123247
PheGenIrs398123247
hapmaprs398123247
1000 genomesrs398123247
hgdprs398123247
ensemblrs398123247
gopubmedrs398123247
geneviewrs398123247
scholarrs398123247
googlers398123247
pharmgkbrs398123247
gwascentralrs398123247
openSNPrs398123247
23andMers398123247
23andMe allrs398123247
SNP Nexus

SNPshotrs398123247
SNPdbers398123247
MSV3drs398123247
GWAS Ctlgrs398123247
Max Magnitude0
ClinVar
Risk rs398123247(C;C)
Alt rs398123247(C;C)
Reference rs398123247(G;G)
Significance Pathogenic
Disease not provided Mucopolysaccharidosis
Variation info
Gene IDS
CLNDBN not provided Mucopolysaccharidosis, MPS-II
Reversed 1
HGVS NC_000023.10:g.148586564C>G
CLNSRC ClinVar
CLNACC RCV000078359.3, RCV000173081.1,