Gene: GLB1 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs192732174
rs192732174
GLB1
0.800 GeneticVariation UNIPROT Recurrent and novel GLB1 mutations in India. 25936995

2015
dbSNP: rs28934886
rs28934886
GLB1 ; LOC107986073
0.800 GeneticVariation UNIPROT Recurrent and novel GLB1 mutations in India. 25936995

2015
dbSNP: rs72555367
rs72555367
GLB1 ; LOC107986073
0.800 GeneticVariation UNIPROT Recurrent and novel GLB1 mutations in India. 25936995

2015
dbSNP: rs72555390
rs72555390
GLB1
0.800 GeneticVariation UNIPROT Recurrent and novel GLB1 mutations in India. 25936995

2015
dbSNP: rs72555393
rs72555393
GLB1
0.800 GeneticVariation UNIPROT Recurrent and novel GLB1 mutations in India. 25936995

2015
dbSNP: rs192732174
rs192732174
GLB1
0.800 GeneticVariation UNIPROT Structural basis of pharmacological chaperoning for human β-galactosidase. 24737316

2014
dbSNP: rs28934886
rs28934886
GLB1 ; LOC107986073
0.800 GeneticVariation UNIPROT Structural basis of pharmacological chaperoning for human β-galactosidase. 24737316

2014
dbSNP: rs72555367
rs72555367
GLB1 ; LOC107986073
0.800 GeneticVariation UNIPROT Structural basis of pharmacological chaperoning for human β-galactosidase. 24737316

2014
dbSNP: rs72555390
rs72555390
GLB1
0.800 GeneticVariation UNIPROT Structural basis of pharmacological chaperoning for human β-galactosidase. 24737316

2014
dbSNP: rs72555393
rs72555393
GLB1
0.800 GeneticVariation UNIPROT Structural basis of pharmacological chaperoning for human β-galactosidase. 24737316

2014
dbSNP: rs192732174
rs192732174
GLB1
0.800 GeneticVariation UNIPROT GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. 19472408

2009
dbSNP: rs28934886
rs28934886
GLB1 ; LOC107986073
0.800 GeneticVariation UNIPROT GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. 19472408

2009
dbSNP: rs72555367
rs72555367
GLB1 ; LOC107986073
0.800 GeneticVariation UNIPROT GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. 19472408

2009
dbSNP: rs72555390
rs72555390
GLB1
0.800 GeneticVariation UNIPROT GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. 19472408

2009
dbSNP: rs72555393
rs72555393
GLB1
0.800 GeneticVariation UNIPROT GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. 19472408

2009
dbSNP: rs192732174
rs192732174
GLB1
0.800 GeneticVariation UNIPROT Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America. 17309651

2007
dbSNP: rs192732174
rs192732174
GLB1
0.800 GeneticVariation UNIPROT Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients. 17664528

2007
dbSNP: rs28934886
rs28934886
GLB1 ; LOC107986073
0.800 GeneticVariation UNIPROT Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients. 17664528

2007
dbSNP: rs28934886
rs28934886
GLB1 ; LOC107986073
0.800 GeneticVariation UNIPROT Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America. 17309651

2007
dbSNP: rs72555367
rs72555367
GLB1 ; LOC107986073
0.800 GeneticVariation UNIPROT Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients. 17664528

2007
dbSNP: rs72555367
rs72555367
GLB1 ; LOC107986073
0.800 GeneticVariation UNIPROT Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America. 17309651

2007
dbSNP: rs72555390
rs72555390
GLB1
0.800 GeneticVariation UNIPROT Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America. 17309651

2007
dbSNP: rs72555390
rs72555390
GLB1
0.800 GeneticVariation UNIPROT Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients. 17664528

2007
dbSNP: rs72555393
rs72555393
GLB1
0.800 GeneticVariation UNIPROT Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients. 17664528

2007
dbSNP: rs72555393
rs72555393
GLB1
0.800 GeneticVariation UNIPROT Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America. 17309651

2007