Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894834
rs104894834
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		A 0.830 CausalMutation CLINVAR The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. 27657681

2017
dbSNP: rs104894834
rs104894834
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		A 0.830 CausalMutation CLINVAR Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry. 22227322

2012
dbSNP: rs104894834
rs104894834
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		A 0.830 CausalMutation CLINVAR Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone. 18698230

2008
dbSNP: rs104894834
rs104894834
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		A 0.830 CausalMutation CLINVAR Early detection of Fabry cardiomyopathy by tissue Doppler imaging. 12668521

2003
dbSNP: rs104894834
rs104894834
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		A 0.830 CausalMutation CLINVAR Mutation analysis in patients with the typical form of Anderson-Fabry disease. 8395937

1993
dbSNP: rs104894834
rs104894834
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		A 0.830 CausalMutation CLINVAR 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