Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123201
rs398123201
GLA ; HNRNPH2 ; 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: rs398123201
rs398123201
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		G 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: rs398123201
rs398123201
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		G 0.800 CausalMutation CLINVAR Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease. 19287194

2009
dbSNP: rs398123201
rs398123201
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		G 0.800 CausalMutation CLINVAR Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone. 18205205

2008
dbSNP: rs398123201
rs398123201
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		G 0.800 CausalMutation CLINVAR Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries. 8875188

1996