Disorder "Long QT Syndrome"
Found 65 records
Disorder information
Disorder name:
Long QT Syndrome
Disoder ID:
OMIM entry:
Definition:
Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
Modifier statisitcs
Record:
65
Gene:
16
Variant:
41
Reference:
11
Effect type:
Expressivity(56)
,Penetrance(9)
Modifier effect:
Risk factor(35)
,Altered severity(19)
,Altered incidence(9)
,Altered density of expressed heterozygous KCNH2 channels(1)
,Altered onset time(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| NOS1AP | NOS1AP:c.-4694T>C | Expressivity | Risk factor | From review article | Increase risk of cardiac eventsmore | more |
| NOS1AP:c.-4694T>C | Expressivity | Risk factor | HR=8.57, 95% CI: (2.30, 31.9), q=0.045 | SNPs in NOS1AP and KCNQ1 are associated with an increased risk of cardiac events in LQTS patientsmore | more | |
| NOS1AP:n.162014632A>G | Expressivity | Altered severity | From review article | Increase QT symptomsmore | more | |
| NOS1AP:n.162014632A>G | Expressivity | Altered severity | P=4.8×10(-7) | SNPs at NOS1AP (rs10494366, P=9.5×10(-8); rs12143842, P=4.8×10(-7); and rs2880058, P=8.6×10(-7)) were strongly associated with the QTc-interval with marked effectsmore | more | |
| NOS1AP:n.162029907A>T | Expressivity | Altered severity | From review article | Increase QT symptomsmore | more | |
| NOS1AP:n.162029907A>T | Expressivity | Risk factor | P<0.05 | Whereas rs4657139 and rs10494366 were associated with increased incidence of cardiac eventsmore | more | |
| NOS1AP:n.162029907A>T | Expressivity | Risk factor | P=0.03 | NOS1AP variants were significantly associated with the occurrence of congenital long-QT syndromemore | more | |
| NOS1AP:n.162033890C>T | Expressivity | Altered severity | From review article | Increase QT symptomsmore | more | |
| NOS1AP:n.162033890C>T | Expressivity | Risk factor | HR=10.15, 95% CI: (2.38, 43.34), q = 0.045 | SNPs in NOS1AP and KCNQ1 are associated with an increased risk of cardiac events in LQTS patientsmore | more | |
| NOS1AP:n.162033890C>T | Expressivity | Altered severity | P=9.5×10(-8) | SNPs at NOS1AP (rs10494366, P=9.5×10(-8); rs12143842, P=4.8×10(-7); and rs2880058, P=8.6×10(-7)) were strongly associated with the QTc-interval with marked effectsmore | more |