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rs398123356

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398123356(-;-)
Make rs398123356(-;T)
Make rs398123356(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position33097034
GeneGLB1, TMPPE
is asnp
is mentioned by
dbSNPrs398123356
ebirs398123356
HLIrs398123356
Exacrs398123356
Varsomers398123356
Maprs398123356
PheGenIrs398123356
hapmaprs398123356
1000 genomesrs398123356
hgdprs398123356
ensemblrs398123356
gopubmedrs398123356
geneviewrs398123356
scholarrs398123356
googlers398123356
pharmgkbrs398123356
gwascentralrs398123356
openSNPrs398123356
23andMers398123356
23andMe allrs398123356
SNP Nexus

SNPshotrs398123356
SNPdbers398123356
MSV3drs398123356
GWAS Ctlgrs398123356
Max Magnitude0
ClinVar
Risk rs398123356(T;T)
Alt rs398123356(T;T)
Reference rs398123356(;)
Significance Pathogenic
Disease not provided Mucopolysaccharidosis Gangliosidosis GM1 type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis
Variation info
Gene TMPPE GLB1
CLNDBN not provided Mucopolysaccharidosis, MPS-IV-B Gangliosidosis GM1 type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis
Reversed 1
HGVS NC_000003.11:g.33138527dupA
CLNSRC ClinVar
CLNACC RCV000078718.3, RCV000173122.1, RCV000173123.1, RCV000173124.1, RCV000173125.1,