Gene: GLA ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28935197
rs28935197
GLA ; RPL36A-HNRNPH2
0.010 GeneticVariation BEFREE An atypical p.N215S variant of Fabry disease with end-stage renal failure. 30023289

2018
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
0.010 GeneticVariation BEFREE In addition, our results underscore the high prevalence of not only undiagnosed Fabry patients but functional variants of p.E66Q among the ESRD population. 22695894

2012