Arrvars

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datasource: January 2020
description: Examines variants associated with arrhythmia diseases such as Brugada Syndrome and Long QT Syndrome.
developer:
name: ‘Vanderbilt University Medical Center for Arrhythmia Research and Therapeutics’
organization: ‘Vanderbilt University Medical Center for Arrhythmia Research and Therapeutics’
email: ‘support@cravat.us’
website: ‘https://oates.app.vumc.org/vancart/’
citation: ‘Kroncke, Brett M., et al. “A Bayesian method to estimate variant-induced disease penetrance.” PLoS genetics 16.6 (2020): e1008862.’

level: variant
output_columns:
– name: lqt
title: LQT
type: float
hidden: false
width: 55
desc: Number of heterozygotes diagnosed with Long QT Syndrome.

– name: brs
title: BrS
type: float
hidden: false
desc: Number of heterozygotes diagnosed with Brugada Syndrome.
width: 55

– name: unaff
title: unaffected
type: float
hidden: true
desc: Number of heterozygotes unaffected with disease.
width: 68

– name: other
title: other
type: float
hidden: true
desc: Number of heterozygotes diagnosed with a cardiac disease that is not LQT or BrS.
width: 55

– name: brs_penetrance
title: BrS Penetrance
type: float
hidden: true
desc: Estimated percentage of individuals heterozygous for the variant who express Brugada Syndrome.
width: 80

– name: lqt_penetrance
title: LQT Penetrance
type: float
hidden: true
desc: Estimated percentage of individuals heterozygous for the variant who express Long QT Syndrome.
width: 80

– name: function
title: Function
type: string
hidden: false
desc: Functional Impact. LOF = loss of function and GOF = gain of function.
width: 65

– name: brs_structure
title: BrS Hotspot
type: string
hidden: false
desc: Regions in protein structure with higher BrS penetrance.
width: 85

– name: lqt_structure
title: LQT Hotspot
type: string
hidden: false
desc: Regions in protein structure with higher LQT penetrance.
width: 85

– name: link
title: More Information
type: string
hidden: true
desc: Link to dataset.
width: 75

tags:
– clinical relevance
title: Arrhythmia Channelopathy Variants
version: 1.2.0
release_note:
1.2.0: Data update
1.1.0: Data update
type: annotator