Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312344
rs869312344
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 GeneticVariation CLINVAR Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. 26415523

2016
dbSNP: rs869312344
rs869312344
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 GeneticVariation CLINVAR Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. 23935525

2013
dbSNP: rs869312344
rs869312344
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 GeneticVariation CLINVAR The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines. 19387866

2009
dbSNP: rs869312344
rs869312344
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 GeneticVariation CLINVAR Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches. 10208848

1999
dbSNP: rs869312344
rs869312344
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 GeneticVariation CLINVAR Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. 9100224

1997