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rs398123348

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs398123348(-;-)
Make rs398123348(-;CT)
ReferenceGRCh38 38.1/141
Chromosome3
Position33021624
GeneGLB1
is asnp
is mentioned by
dbSNPrs398123348
ebirs398123348
HLIrs398123348
Exacrs398123348
Varsomers398123348
Maprs398123348
PheGenIrs398123348
hapmaprs398123348
1000 genomesrs398123348
hgdprs398123348
ensemblrs398123348
gopubmedrs398123348
geneviewrs398123348
scholarrs398123348
googlers398123348
pharmgkbrs398123348
gwascentralrs398123348
openSNPrs398123348
23andMers398123348
23andMe allrs398123348
SNP Nexus

SNPshotrs398123348
SNPdbers398123348
MSV3drs398123348
GWAS Ctlgrs398123348
Max Magnitude0
ClinVar
Risk rs398123348(;)
Alt rs398123348(;)
Reference rs398123348(CT;CT)
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.33063116_33063117delAG
CLNSRC ClinVar
CLNACC RCV000078699.3, RCV000174241.1, RCV000174242.1, RCV000174243.1, RCV000174244.1,