Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044613
rs797044613
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.810 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs797044613
rs797044613
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.810 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs797044613
rs797044613
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.810 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014
dbSNP: rs797044613
rs797044613
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.810 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838

2014
dbSNP: rs797044613
rs797044613
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.810 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs797044613
rs797044613
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.810 GeneticVariation UNIPROT Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. 23860966

2013
dbSNP: rs797044613
rs797044613
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.810 GeneticVariation UNIPROT Clinical utility gene card for: Fabry disease. 21934708

2012
dbSNP: rs797044613
rs797044613
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.810 GeneticVariation UNIPROT HFSA 2010 Comprehensive Heart Failure Practice Guideline. 20610207

2010
dbSNP: rs797044613
rs797044613
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.810 GeneticVariation UNIPROT Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. 16980809

2006
dbSNP: rs797044613
rs797044613
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.810 GeneticVariation UNIPROT Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. 12735292

2002