Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555985200
rs1555985200
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		G 0.700 GeneticVariation CLINVAR Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype. 12175777

2002
dbSNP: rs1555985200
rs1555985200
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		G 0.700 GeneticVariation CLINVAR Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. 10666480

1999