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rs398123358

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123358(C;C)
Make rs398123358(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position33097010
GeneGLB1, TMPPE
is asnp
is mentioned by
dbSNPrs398123358
ebirs398123358
HLIrs398123358
Exacrs398123358
Varsomers398123358
Maprs398123358
PheGenIrs398123358
hapmaprs398123358
1000 genomesrs398123358
hgdprs398123358
ensemblrs398123358
gopubmedrs398123358
geneviewrs398123358
scholarrs398123358
googlers398123358
pharmgkbrs398123358
gwascentralrs398123358
openSNPrs398123358
23andMers398123358
23andMe allrs398123358
SNP Nexus

SNPshotrs398123358
SNPdbers398123358
MSV3drs398123358
GWAS Ctlgrs398123358
Max Magnitude0
ClinVar
Risk rs398123358(C;C)
Alt rs398123358(C;C)
Reference rs398123358(G;G)
Significance Pathogenic
Disease not provided Mucopolysaccharidosis Infantile GM1 gangliosidosis Gangliosidosis GM1 type 3 GM1 gangliosidosis type 2
Variation info
Gene TMPPE GLB1
CLNDBN not provided Mucopolysaccharidosis, MPS-IV-B Infantile GM1 gangliosidosis Gangliosidosis GM1 type 3 GM1 gangliosidosis type 2
Reversed 1
HGVS NC_000003.11:g.33138502C>G
CLNSRC ClinVar
CLNACC RCV000078721.3, RCV000173118.1, RCV000173119.1, RCV000173120.1, RCV000173121.1,