Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894840
rs104894840
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		G 0.800 CausalMutation CLINVAR Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. 26415523

2016
dbSNP: rs104894840
rs104894840
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 CausalMutation CLINVAR Exploratory screening for Fabry's disease in young adults with cerebrovascular disorders in northern Sardinia. 26652600

2015
dbSNP: rs104894840
rs104894840
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 CausalMutation CLINVAR Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. 23935525

2013
dbSNP: rs104894840
rs104894840
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 CausalMutation CLINVAR A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease. 21598360

2011
dbSNP: rs104894840
rs104894840
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 CausalMutation CLINVAR Ocular manifestations of Fabry disease within in a single kindred. 20615758

2010
dbSNP: rs104894840
rs104894840
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 CausalMutation CLINVAR The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels. 17206462

2007
dbSNP: rs104894840
rs104894840
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 CausalMutation CLINVAR Pediatric Fabry disease. 15713906

2005
dbSNP: rs104894840
rs104894840
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 CausalMutation CLINVAR Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers. 12920095

2003
dbSNP: rs104894840
rs104894840
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 CausalMutation CLINVAR Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. 10916280

2000
dbSNP: rs104894840
rs104894840
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 CausalMutation CLINVAR Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. 7504405

1993