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1 records shown · first 60Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2.
PMID 25737393 | PMCID PMC4770255 | DOI 10.1161/CIRCGENETICS.114.000785 · Circulation. Cardiovascular genetics · 2015 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs12576239 | “Analysis of patients versus general population controls uncovered enrichment of QTc-prolonging alleles in patients for 2 SNPs, located respectively at NOS1AP (rs12029454; odds ratio, 1.85; 95% confidence interval, 1.32-2.59; P=3×10(-4)) and KCNQ1 (rs12576239; odds ratio, 1.84; 95% confidence interval, 1.31-2.60; P=5×10(-4)).” | 0.90 | hgvs_regex_v1 |
| gene | KCNH2 | “METHODS AND RESULTS: We searched for single-nucleotide polymorphisms (SNPs) that modulate the corrected QT (QTc)-interval and the occurrence of cardiac events in 639 patients harboring different mutations in KCNH2.” | 0.98 | hgnc_dict_v1 |
| gene | NOS1AP | “In an analysis for quantitative effects on the QTc-interval, 3 independent 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 effects (>12 ms/allele).” | 0.98 | hgnc_dict_v1 |
| gene | KCNQ1 | “Analysis of patients versus general population controls uncovered enrichment of QTc-prolonging alleles in patients for 2 SNPs, located respectively at NOS1AP (rs12029454; odds ratio, 1.85; 95% confidence interval, 1.32-2.59; P=3×10(-4)) and KCNQ1 (rs12576239; odds ratio, 1.84; 95% confidence interval, 1.31-2.60; P=5×10(-4)).” | 0.98 | hgnc_dict_v1 |