Have questions? Visit https://www.reddit.com/r/SNPedia

rs398123354

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123354(C;C)
Make rs398123354(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position33068228
GeneGLB1
is asnp
is mentioned by
dbSNPrs398123354
ebirs398123354
HLIrs398123354
Exacrs398123354
Varsomers398123354
Maprs398123354
PheGenIrs398123354
hapmaprs398123354
1000 genomesrs398123354
hgdprs398123354
ensemblrs398123354
gopubmedrs398123354
geneviewrs398123354
scholarrs398123354
googlers398123354
pharmgkbrs398123354
gwascentralrs398123354
openSNPrs398123354
23andMers398123354
23andMe allrs398123354
SNP Nexus

SNPshotrs398123354
SNPdbers398123354
MSV3drs398123354
GWAS Ctlgrs398123354
Max Magnitude0
ClinVar
Risk rs398123354(C;C)
Alt rs398123354(C;C)
Reference rs398123354(T;T)
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.33109720A>G
CLNSRC ClinVar
CLNACC RCV000078715.3, RCV000178088.1, RCV000178089.1, RCV000178090.1, RCV000178091.1,