Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111422676
rs111422676
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 CausalMutation CLINVAR Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system. 28302345

2017
dbSNP: rs111422676
rs111422676
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 CausalMutation CLINVAR Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations. 25382311

2015
dbSNP: rs111422676
rs111422676
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 CausalMutation CLINVAR Late onset variants in Fabry disease: Results in high risk population screenings in Argentina. 26937405

2015
dbSNP: rs111422676
rs111422676
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: rs111422676
rs111422676
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: rs111422676
rs111422676
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 CausalMutation CLINVAR Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype. 12175777

2002
dbSNP: rs111422676
rs111422676
GLA ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		T 0.800 CausalMutation CLINVAR Fabry disease: 20 novel GLA mutations in 35 families. 11668641

2001