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rs189115557

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs189115557(C;T)
Make rs189115557(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position33058220
GeneGLB1
is asnp
is mentioned by
dbSNPrs189115557
ebirs189115557
HLIrs189115557
Exacrs189115557
Varsomers189115557
Maprs189115557
PheGenIrs189115557
hapmaprs189115557
1000 genomesrs189115557
hgdprs189115557
ensemblrs189115557
gopubmedrs189115557
geneviewrs189115557
scholarrs189115557
googlers189115557
pharmgkbrs189115557
gwascentralrs189115557
openSNPrs189115557
23andMers189115557
23andMe allrs189115557
SNP Nexus

SNPshotrs189115557
SNPdbers189115557
MSV3drs189115557
GWAS Ctlgrs189115557
Max Magnitude0
ClinVar
Risk rs189115557(T;T)
Alt rs189115557(T;T)
Reference rs189115557(C;C)
Significance Pathogenic
Disease Mucopolysaccharidosis Gangliosidosis GM1 type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis
Variation info
Gene TMPPE GLB1
CLNDBN Mucopolysaccharidosis, MPS-IV-B Gangliosidosis GM1 type 3 GM1 gangliosidosis type 2 Infantile GM1 gangliosidosis
Reversed 0
HGVS NC_000003.11:g.33099712C>T
CLNSRC
CLNACC RCV000179302.1, RCV000179303.1, RCV000179304.1, RCV000179305.1,