Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs797044613
rs797044613
0.810 GeneticVariation BEFREE A novel alpha-galactosidase a mutant (M42L) identified in a renal variant of Fabry disease. 15492942

2004

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: 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: 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: 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: rs104894833
rs104894833
0.800 GeneticVariation BEFREE The genetic analysis did not identify a causative mutation responsible for classic Fabry disease in any of the patients, but 2 patients (.4%) carried the p.E66Q in GLA. 30201457

2018

dbSNP: rs104894833
rs104894833
0.800 GeneticVariation BEFREE Five male patients and two female patients had GLA c.196G>C (p.E66Q) variant, which is not associated with the full clinical manifestations of Fabry disease. 28275245

2017

dbSNP: rs104894833
rs104894833
0.800 GeneticVariation BEFREE Our results directly implicated the GLA mutation p.E66Q as the genetic etiology of the Chinese renal variant FD pedigree. 26456105

2016

dbSNP: rs104894833
rs104894833
0.800 GeneticVariation BEFREE This is the confusable case of HOCM with Fabry disease with the GLA E66Q mutation. 27160240

2016

dbSNP: rs104894833
rs104894833
0.800 GeneticVariation BEFREE The p.E66Q variant of the α-galactosidase A gene (GLA) is frequently found during screening for Fabry disease in dialysis patients in Japan. 24718812

2015

dbSNP: rs104894833
rs104894833
0.800 GeneticVariation BEFREE In terms of genetic abnormalities, the E66Q mutation has recently become a topic of discussion, and although doubts have been expressed over whether or not it is the gene responsible for Fabry disease, there is still a strong possibility that it is a functional genetic polymorphism. 24189976

2014

dbSNP: rs104894833
rs104894833
0.800 GeneticVariation BEFREE All IS patients with p.E66Q mutation had substantial residual α-Gal A activity, in contrast to patients with classic-type Fabry disease. 23724928

2014

dbSNP: rs104894833
rs104894833
0.800 GeneticVariation BEFREE On the other hand, unexpectedly high frequencies of male subjects having the c.196G>C nucleotide change (p.E66Q) showing low α-GLA activity have been reported on Japanese and Korean screening for Fabry disease. 22695894

2012

dbSNP: rs104894833
rs104894833
0.800 GeneticVariation BEFREE The frequency of Fabry disease with the E66Q variant in the α-galactosidase A gene in Japanese dialysis patients: a case report and a literature review. 22874111

2012

dbSNP: rs104894833
rs104894833
0.800 GeneticVariation BEFREE An electron microscopic examination did not reveal any pathological changes specific to Fabry disease in biopsied skin tissues from a male subject with the E66Q enzyme. 22305854

2012

dbSNP: rs104894833
rs104894833
0.800 GeneticVariation BEFREE These two patients with the E66Q mutation were excluded because of the possibility of polymorphism; the prevalence of Fabry disease in the HD population was finally calculated to be 0.11%. 22563919

2012

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

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: rs28935490
rs28935490
0.780 GeneticVariation BEFREE This suggests that p.D313Y causes a potentially treatable condition resembling an early stage of Fabry disease. 30830284

2019

dbSNP: rs28935490
rs28935490
0.780 GeneticVariation BEFREE Additionally, we detected 8 subjects carrying genetic variants possibly linked to late onset Fabry disease (p.Arg118Cys and p.Ala143Thr), 4 cases with polymorphism p.Asp313Tyr and 36 individuals with single nucleotide polymorphisms in intronic regions of GLA. 29631605

2018

dbSNP: rs28935490
rs28935490
0.780 GeneticVariation BEFREE Eight D313Y carriers were presenting signs of FD despite not fulfilling the criteria of the disease, two had no FD signs and two others were apparently healthy. 28988177

2017

dbSNP: rs28935490
rs28935490
0.780 GeneticVariation BEFREE Our findings indicate that the D313Y variant is not causative to nor enhancing Fabry disease phenotype. 29037082

2017

dbSNP: rs28935490
rs28935490
0.780 GeneticVariation BEFREE The mutation p.D313Y is associated with organ manifestation in Fabry disease. 28276057

2017