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rs398123349

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398123349(-;-)
Make rs398123349(-;GGTGCATATAT)
Make rs398123349(GGTGCATATAT;GGTGCATATAT)
ReferenceGRCh38 38.1/141
Chromosome3
Position33016721
GeneGLB1
is asnp
is mentioned by
dbSNPrs398123349
ebirs398123349
HLIrs398123349
Exacrs398123349
Varsomers398123349
Maprs398123349
PheGenIrs398123349
hapmaprs398123349
1000 genomesrs398123349
hgdprs398123349
ensemblrs398123349
gopubmedrs398123349
geneviewrs398123349
scholarrs398123349
googlers398123349
pharmgkbrs398123349
gwascentralrs398123349
openSNPrs398123349
23andMers398123349
23andMe allrs398123349
SNP Nexus

SNPshotrs398123349
SNPdbers398123349
MSV3drs398123349
GWAS Ctlgrs398123349
Max Magnitude0
ClinVar
Risk rs398123349(GGTGCATATAT;GGTGCATATAT)
Alt rs398123349(GGTGCATATAT;GGTGCATATAT)
Reference rs398123349(;)
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.33058214_33058224dupATATATGCACC
CLNSRC ClinVar
CLNACC RCV000078704.3, RCV000174675.1, RCV000174676.1, RCV000174677.1, RCV000174678.1,