Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.800 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
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.800 GeneticVariation UNIPROT HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 21810866 2011
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
0.800 GeneticVariation CLINVAR
Uric acid measurement (procedure)
CUI: C0202239
Disease: Uric acid measurement (procedure)
0.700 GeneticVariation GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443 2018
Hyperuricemia
CUI: C0740394
Disease: Hyperuricemia
0.700 GeneticVariation GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443 2018
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
0.010 GeneticVariation BEFREE Compound heterozygosity for mutations Asp611-->Tyr in KCNQ1 and Asp609-->Gly in KCNH2 associated with severe long QT syndrome. 15500450 2005