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rs192732174

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs192732174(A;A)
Make rs192732174(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position33068245
GeneGLB1
is asnp
is mentioned by
dbSNPrs192732174
ebirs192732174
HLIrs192732174
Exacrs192732174
Varsomers192732174
Maprs192732174
PheGenIrs192732174
hapmaprs192732174
1000 genomesrs192732174
hgdprs192732174
ensemblrs192732174
gopubmedrs192732174
geneviewrs192732174
scholarrs192732174
googlers192732174
pharmgkbrs192732174
gwascentralrs192732174
openSNPrs192732174
23andMers192732174
23andMe allrs192732174
SNP Nexus

SNPshotrs192732174
SNPdbers192732174
MSV3drs192732174
GWAS Ctlgrs192732174
Max Magnitude0
ClinVar
Risk rs192732174(A,T;A,T)
Alt rs192732174(A,T;A,T)
Reference rs192732174(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 0
HGVS NC_000003.11:g.33109737G>A
CLNSRC HGMD
CLNACC RCV000078714.3, RCV000178092.1, RCV000178093.1, RCV000178094.1, RCV000178095.1,