Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894838
rs104894838
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.800 GeneticVariation UNIPROT Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease. 1315715

1992
dbSNP: rs104894838
rs104894838
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.800 GeneticVariation UNIPROT An atypical variant of Fabry's disease with manifestations confined to the myocardium. 1846223

1991
dbSNP: rs104894838
rs104894838
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.800 GeneticVariation UNIPROT A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser. 2152885

1990
dbSNP: rs104894838
rs104894838
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.800 GeneticVariation UNIPROT Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease. 2171331

1990
dbSNP: rs104894838
rs104894838
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.800 GeneticVariation UNIPROT Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. 2539398

1989