Tag

Arrhythmia

38 genetic variants with this tag.

RSID	Gene	Description	Category
rs10033464	KCNN3 KCNN3 AF susceptibility variant	Intergenic 4q25 variant near KCNN3 and PITX2 that confers an independent risk...	Arrhythmia & Heart Rhythm	Arrhythmia	Strong
rs104894369	MYL2 Arg58Gln	Pathogenic missense variant in the cardiac regulatory myosin light chain caus...	Cardiomyopathy & Structural Heart	Arrhythmia	Established
rs10918594	NOS1AP	Regulatory variant upstream of NOS1AP (CAPON) associated with QT interval pro...	Arrhythmia & Heart Rhythm	Arrhythmia	Strong
rs11265611	IL6R	Intronic IL6R variant in LD with the IL-6 receptor signaling locus; G allele ...	Coronary Artery Disease & Atherosclerosis	Arrhythmia	Moderate
rs1805123	KCNH2 K897T	Common KCNH2 missense variant that alters hERG potassium channel kinetics, sh...	Arrhythmia & Heart Rhythm	Arrhythmia	Strong
rs199473521	KCNH2 K595N	Ultra-rare KCNH2 missense variant substituting asparagine for lysine at posit...	Arrhythmia & Heart Rhythm	Arrhythmia	Moderate
rs104894797	DMD Arg3182Ter (R3182*)	Pathogenic nonsense variant in dystrophin creating a premature stop codon at ...	Cardiomyopathy & Structural Heart	Arrhythmia	Established
rs10889160	CYP2J2	Intronic CYP2J2 tag SNP; the C allele marks a haplotype associated with reduc...	Vascular Inflammation & Remodeling	Arrhythmia	Moderate
rs2200733	PITX2 PITX2 4q25 AF susceptibility variant	Intergenic variant at chromosome 4q25 near PITX2 — the strongest GWAS signal ...	Arrhythmia & Heart Rhythm	Arrhythmia	Strong
rs28937317	SCN5A N1325S	Rare gain-of-function missense variant in the cardiac sodium channel Nav1.5 c...	Arrhythmia & Heart Rhythm	Arrhythmia	Established
rs1057518309	DSP Arg451Gly	Rare pathogenic missense variant in desmoplakin that enhances calpain-mediate...	Cardiomyopathy & Structural Heart	Arrhythmia	Strong
rs28937319	SCN5A SCN5A Cardiac Sodium Channel Variant 2	Rare loss-of-function missense variant in the cardiac sodium channel Nav1.5 c...	Arrhythmia & Heart Rhythm	Arrhythmia	Strong
rs111517471	PKP2	Splice donor variant in plakophilin-2 that disrupts mRNA splicing at an exon–...	Cardiomyopathy & Structural Heart	Arrhythmia	Strong
rs11570112	MYBPC3 Gln998X	Pathogenic truncating variant in cardiac myosin-binding protein C causing hap...	Cardiomyopathy & Structural Heart	Arrhythmia	Established
rs2070699	EDN1 EDN1 G2288T Intronic Variant	Intronic EDN1 variant modulating endothelin-1 expression; the T allele associ...	Blood Pressure & Hypertension	Arrhythmia	Moderate
rs2968863	KCNH2	Intergenic variant near KCNH2 (hERG potassium channel) at 7q36.1 that shorten...	Arrhythmia & Heart Rhythm	Arrhythmia	Moderate
rs2968864	KCNH2 KCNH2 QT interval GWAS variant (7q36.1)	Intergenic variant at 7q36.1 near KCNH2 (hERG potassium channel) that modulat...	Arrhythmia & Heart Rhythm	Arrhythmia	Strong
rs2301612	ADAMTS13 Q448E	Common ADAMTS13 missense variant substituting glutamate for glutamine at posi...	Von Willebrand & Anticoagulant Proteins	Arrhythmia	Moderate
rs397508068	KCNQ1 Phe340del	Pathogenic in-frame 3-bp deletion in the KCNQ1 potassium channel that removes...	Arrhythmia & Heart Rhythm	Arrhythmia	Established
rs397508072	KCNQ1 Q356X	Nonsense mutation in the cardiac IKs potassium channel causing premature prot...	Arrhythmia & Heart Rhythm	Arrhythmia	Established
rs1600482909	JPH2 Ser101Arg	Rare pathogenic missense variant in junctophilin-2 that disrupts T-tubule/sar...	Cardiomyopathy & Structural Heart	Arrhythmia	Strong
rs397508075	KCNQ1 KCNQ1 Long QT Type 1 Variant 3	Pathogenic nonsense variant (Q359X) in KCNQ1 that truncates the IKs potassium...	Arrhythmia & Heart Rhythm	Arrhythmia	Established
rs187830361	MYBPC3 Trp792Arg (W792R)	Ultra-rare pathogenic missense variant in the C6 fibronectin domain of cardia...	Cardiomyopathy & Structural Heart	Arrhythmia	Strong
rs397508077	KCNQ1 Long QT Type 1 Variant 4 (c.1124_1127del)	Pathogenic 4bp frameshift deletion in KCNQ1 that eliminates the IKs potassium...	Arrhythmia & Heart Rhythm	Arrhythmia	Established
rs57875989	PER3 PER3 VNTR (4/5 repeat)	Coding VNTR in exon 18 of the circadian clock gene PER3; 4-repeat vs 5-repeat...	Arrhythmia & Heart Rhythm	Arrhythmia	Moderate
rs201457110	DCHS1	Rare pathogenic missense variant in DCHS1 (R2513H) causing mitral valve prola...	Cardiomyopathy & Structural Heart	Arrhythmia	Moderate
rs375882485	MYBPC3 Arg502Trp	Pathogenic missense variant in the C3 domain of cardiac myosin-binding protei...	Cardiomyopathy & Structural Heart	Arrhythmia	Established
rs397515953	MYBPC3	Rare pathogenic/likely pathogenic missense variant in the C5 immunoglobulin-l...	Cardiomyopathy & Structural Heart	Arrhythmia	Strong
rs397516127	MYH7 Arg663Cys (R663C)	Pathogenic missense variant in the beta-myosin heavy chain motor domain causi...	Cardiomyopathy & Structural Heart	Arrhythmia	Strong
rs397516394	TPM1 Met281Val	Ultra-rare TPM1 missense variant of uncertain significance found in hypertrop...	Cardiomyopathy & Structural Heart	Arrhythmia	Emerging
rs397516919	DSP DSP Trp550Ter	Nonsense variant in desmoplakin that truncates the protein at codon 550, caus...	Cardiomyopathy & Structural Heart	Arrhythmia	Strong
rs397516923	DSP DSP Q72Ter	Rare truncating variant in desmoplakin that creates a premature stop codon at...	Cardiomyopathy & Structural Heart	Arrhythmia	Moderate
rs397516929	DSP Ser987Pro	Rare missense variant in desmoplakin that likely disrupts desmosomal integrit...	Cardiomyopathy & Structural Heart	Arrhythmia	Emerging
rs397516943	DSP	Pathogenic DSP nonsense variant creating a premature stop codon at position 1...	Cardiomyopathy & Structural Heart	Arrhythmia	Established
rs397516946	DSP DSP Q1810X	Pathogenic stop-gain in desmoplakin's tail domain; one copy truncates the pro...	Cardiomyopathy & Structural Heart	Arrhythmia	Strong
rs74315379	TNNT2 R141W / R151W	Rare pathogenic missense variant in cardiac troponin T causing calcium desens...	Cardiomyopathy & Structural Heart	Arrhythmia	Established
rs76992529	TTR Val142Ile (V142I)	Most common amyloidogenic TTR variant in African Americans, causing late-onse...	Cardiomyopathy & Structural Heart	Arrhythmia	Established
rs77931234	ACADM c.985A>G (p.Lys329Glu)	Pathogenic missense variant in ACADM reducing MCAD enzyme activity, predispos...	Cardiomyopathy & Structural Heart	Arrhythmia	Established