Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727504348
rs727504348
GLA ; RPL36A-HNRNPH2
T 0.700 GeneticVariation CLINVAR Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin. 17555407

2007
dbSNP: rs727504348
rs727504348
GLA ; RPL36A-HNRNPH2
T 0.700 GeneticVariation CLINVAR Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. 11914245

2002
dbSNP: rs727504348
rs727504348
GLA ; RPL36A-HNRNPH2
T 0.700 GeneticVariation CLINVAR Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease. 7575533

1995