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rs398123353

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123353(A;A)
Make rs398123353(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position33068291
GeneGLB1
is asnp
is mentioned by
dbSNPrs398123353
ebirs398123353
HLIrs398123353
Exacrs398123353
Varsomers398123353
Maprs398123353
PheGenIrs398123353
hapmaprs398123353
1000 genomesrs398123353
hgdprs398123353
ensemblrs398123353
gopubmedrs398123353
geneviewrs398123353
scholarrs398123353
googlers398123353
pharmgkbrs398123353
gwascentralrs398123353
openSNPrs398123353
23andMers398123353
23andMe allrs398123353
SNP Nexus

SNPshotrs398123353
SNPdbers398123353
MSV3drs398123353
GWAS Ctlgrs398123353
Max Magnitude0
ClinVar
Risk rs398123353(A;A)
Alt rs398123353(A;A)
Reference rs398123353(G;G)
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.33109783C>T
CLNSRC ClinVar
CLNACC RCV000078713.3, RCV000178084.1, RCV000178085.1, RCV000178086.1, RCV000178087.1,