Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894828
rs104894828
0.840 GeneticVariation BEFREE Single point mutations in the upstream region of exon 6 of the alpha-galactosidase A gene were found in two Japanese cases of the cardiac form of Fabry disease; 301Arg----Gln (902G----A) in a case that has already been published and 279Gln----Glu (835C----G) in a new case. 1315715

1992

dbSNP: rs104894834
rs104894834
0.830 GeneticVariation BEFREE In contrast, two unrelated cases with classic Fabry disease were found to have different point mutations, which showed a complete loss of enzyme activity in a transient expression assay; 328Gly----Arg (982G----A) in the downstream region of exon 6 in one case and two combined mutations, 66Glu----Gln (196G----C)/112Arg----Cys (334C----T), in exon 2 in the other. 1315715

1992

dbSNP: rs104894833
rs104894833
0.800 GeneticVariation BEFREE In contrast, two unrelated cases with classic Fabry disease were found to have different point mutations, which showed a complete loss of enzyme activity in a transient expression assay; 328Gly----Arg (982G----A) in the downstream region of exon 6 in one case and two combined mutations, 66Glu----Gln (196G----C)/112Arg----Cys (334C----T), in exon 2 in the other. 1315715

1992

dbSNP: rs28935485
rs28935485
0.710 GeneticVariation BEFREE Single point mutations in the upstream region of exon 6 of the alpha-galactosidase A gene were found in two Japanese cases of the cardiac form of Fabry disease; 301Arg----Gln (902G----A) in a case that has already been published and 279Gln----Glu (835C----G) in a new case. 1315715

1992

dbSNP: rs104894831
rs104894831
0.810 GeneticVariation BEFREE A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser. 2152885

1990

dbSNP: rs104894848
rs104894848
0.820 GeneticVariation BEFREE Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online. 9554750

1998

dbSNP: rs869312214
rs869312214
0.810 GeneticVariation BEFREE The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A. 10090526

1999

dbSNP: rs104894848
rs104894848
0.820 GeneticVariation BEFREE Role of Ser-65 in the activity of alpha-galactosidase A: characterization of a point mutation (S65T) detected in a patient with Fabry disease. 10845698

2000

dbSNP: rs28935195
rs28935195
0.810 GeneticVariation BEFREE Taken together, the present results strongly suggest that the missense mutation, A156T, in the alpha-Gal A gene causes typical Fabry disease. 11316246

2001

dbSNP: rs28935493
rs28935493
0.810 GeneticVariation BEFREE The diagnosis of FD was confirmed by demonstration of a decreased alpha-galactosidase A activity, and the patient was shown to be hemizygote for a missense mutation (R342Q) in the alpha-galactosidase A gene (GLA). 11531972

2001

dbSNP: rs730880455
rs730880455
0.010 GeneticVariation BEFREE Genetic analysis of two hemizygous male patients revealed a missense mutation predicting a leucine to proline substitution (L14P) in the alpha-galactosidase gene causing classical Fabry's disease in this family. 12480979

2003

dbSNP: rs104894852
rs104894852
0.810 GeneticVariation BEFREE The genotype Y222X is associated with classic Fabry disease, with unexpectedly rapid deterioration of visual acuity, while T410A is associated with a milder Fabry disease, with ventricular hypertrophy and neuropathic pain. 12694230

2003

dbSNP: rs104894851
rs104894851
0.710 GeneticVariation BEFREE The genotype Y222X is associated with classic Fabry disease, with unexpectedly rapid deterioration of visual acuity, while T410A is associated with a milder Fabry disease, with ventricular hypertrophy and neuropathic pain. 12694230

2003

dbSNP: rs28935490
rs28935490
0.780 GeneticVariation BEFREE Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele. 14635108

2003

dbSNP: rs28935490
rs28935490
0.780 GeneticVariation BEFREE Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma. 14680977

2003

dbSNP: rs727503949
rs727503949
0.710 GeneticVariation BEFREE This is the first detailed report of family members with Fabry disease due to a nonsense mutation (R220X) in the alpha-Gal A gene. 15077869

2004

dbSNP: rs797044613
rs797044613
0.810 GeneticVariation BEFREE A novel alpha-galactosidase a mutant (M42L) identified in a renal variant of Fabry disease. 15492942

2004

dbSNP: rs104894845
rs104894845
0.860 GeneticVariation BEFREE Clinical evaluation suggested the diagnosis of Fabry disease, which was confirmed by reduced plasma and leukocyte alpha-galactosidase A activities (8.8% and 13.4% of normal, respectively) due to a missense A143T mutation. 16533976

2006

dbSNP: rs104894828
rs104894828
0.840 GeneticVariation BEFREE DGJ was capable of normalizing intracellular processing of mutant alpha-Gal A found in both classic (L166V) and variant (R301Q) Fabry disease patients. 17555407

2007

dbSNP: rs28935197
rs28935197
0.860 GeneticVariation BEFREE The c.644A>G mutation that has previously been found mostly in patients with the cardiac variant of FD, was associated with renal but not cardiac involvement in this female and in two other family members. 18849176

2008

dbSNP: rs869312142
rs869312142
0.830 GeneticVariation BEFREE Interestingly, the I91T and F113L mutations are associated with the atypical form of Fabry disease. 19287194

2009

dbSNP: rs869312141
rs869312141
0.810 GeneticVariation BEFREE Interestingly, the I91T and F113L mutations are associated with the atypical form of Fabry disease. 19287194

2009

dbSNP: rs104894845
rs104894845
0.860 GeneticVariation BEFREE The Fabry disease-causing A143T mutation was seen in an African-American male with cryptogenic stroke (0.18% of all strokes: upper 95% CI=0.53%; 0.65% of cryptogenic strokes: upper 95% CI=1.92%). 20007919

2010

dbSNP: rs149391489
rs149391489
0.010 GeneticVariation BEFREE Ser126Gly is a novel mutation that can be linked to late-onset Fabry disease. 20360539

2010

dbSNP: rs104894833
rs104894833
0.800 GeneticVariation BEFREE Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns. 20505683

2010