Disorder "Arrhythmia"
Found 37 records
Disorder information
Disorder name:
Arrhythmia
Disoder ID:
Definition:
Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
Modifier statisitcs
Record:
37
Gene:
15
Variant:
34
Reference:
3
Effect type:
Expressivity(37)
Modifier effect:
Risk factor(28)
,Altered severity(6)
,Altered current amplitude(2)
,Altered ectopic trigger and maintenance of AF(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| SCN5A | SCN5A:c.1673A>G(p.His558Arg) | Expressivity | Altered severity | From review article | SCN5A may also account for more severe phenotypic manifestations in conduction disease31 and Brugada syndrome，may exacerbate or alleviate the severity of the disease.more | more |
| SCN5A:c.3308C>A(p.Ser1103Tyr) | Expressivity | Risk factor | From review article | This genetic variance may contribute as a second genetic modifier for arrhythmia development is under current investigation.more | more | |
| KCNQ1 | KCNQ1:c.1343C>T(p.Pro448Leu) | Expressivity | Risk factor | From review article | This genetic variance may contribute as a second genetic modifier for arrhythmia development is under current investigation.more | more |
| KCNQ1:c.1927G>A(p.Gly643Ser) | Expressivity | Risk factor | From review article | This genetic variance may contribute as a second genetic modifier for arrhythmia development is under current investigation.more | more | |
| KCNJ11 | KCNJ11:c.1009G>A(p.Val337Ile) | Expressivity | Risk factor | From review article | This genetic variance may contribute as a second genetic modifier for arrhythmia development is under current investigation.more | more |
| KCNJ11:c.67A>G(p.Lys23Glu) | Expressivity | Risk factor | From review article | This genetic variance may contribute as a second genetic modifier for arrhythmia development is under current investigation.more | more | |
| KCNJ11:c.808C>G(p.Leu270Val) | Expressivity | Risk factor | From review article | This genetic variance may contribute as a second genetic modifier for arrhythmia development is under current investigation.more | more | |
| KCNH2 | KCNH2:c.2690A>C(p.Lys897Thr) | Expressivity | Risk factor | From review article | This genetic variance may contribute as a second genetic modifier for arrhythmia development is under current investigation.more | more |
| KCNH2:p.Ala1116Val | Expressivity | Altered current amplitude | From review article | Coexpression of KCNH2-A1116V and KCNH2-K897T channels together resulted in significantly reduced current amplitudemore | more | |
| KCNH2:p.Ala915Val | Expressivity | Risk factor | From review article | This genetic variance may contribute as a second genetic modifier for arrhythmia development is under current investigation.more | more |