Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28935196
rs28935196
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		G 0.800 GeneticVariation CLINVAR A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease. 21598360

2011
dbSNP: rs28935196
rs28935196
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		G 0.800 GeneticVariation CLINVAR Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. 15100373

2004
dbSNP: rs28935196
rs28935196
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		G 0.800 GeneticVariation CLINVAR Anderson-Fabry disease in Austria. 12778775

2003
dbSNP: rs28935196
rs28935196
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		G 0.800 GeneticVariation CLINVAR Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. 7504405

1993
dbSNP: rs28935196
rs28935196
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		G 0.800 CausalMutation CLINVAR