rs9333649, KCNH2

N. diseases: 3
Disease: Long Qt Syndrome 2 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
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 2
CUI: C3150943
Disease: Long Qt Syndrome 2
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 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
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 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.800 CausalMutation CLINVAR
Long Qt Syndrome 2
CUI: C3150943
Disease: Long Qt Syndrome 2
0.800 CausalMutation CLINVAR