Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064644
rs1064644
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1064651
rs1064651
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		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
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		G 0.800 GeneticVariation CLINVAR Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621

2006
dbSNP: rs1064651
rs1064651
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		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
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		G 0.800 GeneticVariation CLINVAR Prevalent and rare mutations among Gaucher patients. 2269438

1990
dbSNP: rs1064651
rs1064651
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		G 0.800 CausalMutation CLINVAR

dbSNP: rs1064651
rs1064651
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.800 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064

2009
dbSNP: rs1064651
rs1064651
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		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
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.800 GeneticVariation UNIPROT Carrier screening in individuals of Ashkenazi Jewish descent. 18197057

2008
dbSNP: rs1064651
rs1064651
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		G 0.800 GeneticVariation CLINVAR Gaucher disease with communicating hydrocephalus and cardiac involvement. 19816973

2010
dbSNP: rs1064651
rs1064651
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		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: rs1141811
rs1141811
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT

dbSNP: rs1141814
rs1141814
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.800 GeneticVariation UNIPROT Carrier screening in individuals of Ashkenazi Jewish descent. 18197057

2008
dbSNP: rs1141814
rs1141814
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.800 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064

2009
dbSNP: rs1141814
rs1141814
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		A 0.800 CausalMutation CLINVAR

dbSNP: rs1161552095
rs1161552095
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells. 8294033

1993
dbSNP: rs1161552095
rs1161552095
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT Gaucher disease in Spanish patients: analysis of eight mutations. 7627184

1995
dbSNP: rs1161552095
rs1161552095
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs. 9650766

1998
dbSNP: rs1161552095
rs1161552095
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease. 9683600

1998
dbSNP: rs1161552095
rs1161552095
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients. 12204005

2002
dbSNP: rs1161552095
rs1161552095
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses. 9182788

1997
dbSNP: rs1161552095
rs1161552095
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT Use of fluorescent substrates for characterization of Gaucher disease mutations. 15916907

2005
dbSNP: rs1161552095
rs1161552095
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. 10796875

2000
dbSNP: rs1161552095
rs1161552095
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. 11933202

2002
dbSNP: rs1161552095
rs1161552095
GBA
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		0.700 GeneticVariation UNIPROT Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. 16293621

2006