Gene: GBA ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs421016
rs421016
GBA
C 0.850 GeneticVariation CLINVAR

dbSNP: rs1064651
rs1064651
GBA
G 0.800 GeneticVariation CLINVAR Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. 8544197

1995
dbSNP: rs1064651
rs1064651
GBA
G 0.800 GeneticVariation CLINVAR "Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and ""modifier"" polymorphisms." 15146461

2004
dbSNP: rs1064651
rs1064651
GBA
G 0.800 GeneticVariation CLINVAR Gaucher disease with communicating hydrocephalus and cardiac involvement. 19816973

2010
dbSNP: rs1064651
rs1064651
GBA
G 0.800 GeneticVariation CLINVAR Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S). 11992489

2002
dbSNP: rs1064651
rs1064651
GBA
G 0.800 GeneticVariation CLINVAR Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation. 11359469

2001
dbSNP: rs1064651
rs1064651
GBA
G 0.800 GeneticVariation CLINVAR Prevalent and rare mutations among Gaucher patients. 2269438

1990
dbSNP: rs1064651
rs1064651
GBA
G 0.800 GeneticVariation CLINVAR Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621

2006
dbSNP: rs398123527
rs398123527
GBA
G 0.800 GeneticVariation CLINVAR

dbSNP: rs61748906
rs61748906
GBA
G 0.800 GeneticVariation CLINVAR

dbSNP: rs747506979
rs747506979
GBA
A 0.800 GeneticVariation CLINVAR

dbSNP: rs77369218
rs77369218
GBA
A 0.800 GeneticVariation CLINVAR

dbSNP: rs80356769
rs80356769
GBA
A 0.800 GeneticVariation CLINVAR Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene. 2508065

1989
dbSNP: rs80356769
rs80356769
GBA
A 0.800 GeneticVariation CLINVAR Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. 10796875

2000
dbSNP: rs80356769
rs80356769
GBA
A 0.800 GeneticVariation CLINVAR V394L, G377S, and N188S are mutations that have previously been associated with non-neuronopathic Gaucher disease. 12595585

2003
dbSNP: rs80356769
rs80356769
GBA
A 0.800 GeneticVariation CLINVAR Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621

2006
dbSNP: rs80356769
rs80356769
GBA
A 0.800 GeneticVariation CLINVAR Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models. 21257328

2011
dbSNP: rs80356769
rs80356769
GBA
A 0.800 GeneticVariation CLINVAR Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression. 8294487

1994
dbSNP: rs878853321
rs878853321
GBA
G 0.800 GeneticVariation CLINVAR

dbSNP: rs369068553
rs369068553
GBA
G 0.700 GeneticVariation CLINVAR

dbSNP: rs757041827
rs757041827
GBA
A 0.700 GeneticVariation CLINVAR

dbSNP: rs772548282
rs772548282
GBA
G 0.700 GeneticVariation CLINVAR Novel mutations in type 2 Gaucher disease in Chinese and their functional characterization by heterologous expression. 15954102

2005
dbSNP: rs80356772
rs80356772
GBA
T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853314
rs878853314
GBA
G 0.700 GeneticVariation CLINVAR

dbSNP: rs878853315
rs878853315
GBA
C 0.700 GeneticVariation CLINVAR