eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| long qt syndrome | ||||
| Disease ID | 329 |
|---|---|
| Disease | long qt syndrome |
| Definition | A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME. |
| Synonym | long q t syndrome long q-t syndrome long q-t syndrome (disorder) long qt syndrome (disorder) long qt syndrome [disease/finding] long qt syndrome, nos lqt prolonged q-t interval syndrome prolonged q-t interval syndrome, nos ventricular arrhythmia associated with long qt syndrome |
| DOID | |
| ICD10 | |
| UMLS | C0023976 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:15) C0004245 | atrioventricular block | 3 C0038644 | sudden infant death | 1 C0018021 | goiter | 1 C0037315 | sleep apnea | 1 C0020598 | hypoglycemia | 1 C0004096 | asthma | 1 C1960469 | left ventricular noncompaction | 1 C0004245 | av block | 1 C1631597 | catecholaminergic polymorphic ventricular tachycardia | 1 C1565489 | renal insufficiency | 1 C0001623 | adrenal insufficiency | 1 C0043202 | wolff-parkinson-white syndrome | 1 C0038644 | sudden infant death syndrome | 1 C0520679 | obstructive sleep apnea | 1 C0024623 | gastric cancer | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:18) 3784 | KCNQ1 | CLINVAR;CTD_human;UniProtKB-KW;GHR 775 | CACNA1C | CLINVAR;UniProtKB-KW 859 | CAV3 | CLINVAR;UniProtKB-KW 5443 | POMC | CTD_human 5728 | PTEN | CTD_human 23171 | GPD1L | CLINVAR 3757 | KCNH2 | CLINVAR;CTD_human;UniProtKB-KW;GHR 6331 | SCN5A | CLINVAR;CTD_human;UniProtKB-KW;GHR 1832 | DSP | CLINVAR 6330 | SCN4B | UniProtKB-KW 6262 | RYR2 | CLINVAR 6640 | SNTA1 | CLINVAR;UniProtKB-KW 3759 | KCNJ2 | CLINVAR;UniProtKB-KW;GHR 3762 | KCNJ5 | UniProtKB-KW 3753 | KCNE1 | CLINVAR;CTD_human;UniProtKB-KW;GHR 9992 | KCNE2 | CLINVAR;CTD_human;UniProtKB-KW;GHR 287 | ANK2 | CLINVAR;UniProtKB-KW;GHR 10142 | AKAP9 | CLINVAR;UniProtKB-KW |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:23) 1636 | ACE | CIPHER 152 | ADRA2C | CIPHER 153 | ADRB1 | CIPHER 154 | ADRB2 | CIPHER 287 | ANK2 | CIPHER 717 | C2 | CIPHER 3077 | HFE | CIPHER 3162 | HMOX1 | CIPHER 3753 | KCNE1 | CIPHER;CTD_human 9992 | KCNE2 | CIPHER;CTD_human 10008 | KCNE3 | CIPHER 3757 | KCNH2 | CIPHER;CTD_human 3759 | KCNJ2 | CIPHER 3784 | KCNQ1 | CIPHER;CTD_human 50488 | MINK1 | CIPHER 4318 | MMP9 | CIPHER 9722 | NOS1AP | CIPHER 6262 | RYR2 | CIPHER 6331 | SCN5A | CIPHER;CTD_human 7018 | TF | CIPHER 7077 | TIMP2 | CIPHER 5728 | PTEN | CTD_human 5443 | POMC | CTD_human |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:111) 88 | ACTN2 | 1.197 | DISEASES 98 | ACYP2 | 1.49 | DISEASES 152 | ADRA2C | 1.286 | DISEASES 153 | ADRB1 | 2.378 | DISEASES 8165 | AKAP1 | 2.805 | DISEASES 10142 | AKAP9 | 4.89 | DISEASES 208 | AKT2 | 1.178 | DISEASES 287 | ANK2 | 5.548 | DISEASES 395 | ARHGAP6 | 1.611 | DISEASES 22926 | ATF6 | 1.259 | DISEASES 481 | ATP1B1 | 1.319 | DISEASES 493 | ATP2B4 | 2.902 | DISEASES 9532 | BAG2 | 1.247 | DISEASES 779 | CACNA1S | 1.509 | DISEASES 801 | CALM1 | 3.684 | DISEASES 857 | CAV1 | 2.243 | DISEASES 859 | CAV3 | 4.117 | DISEASES 23607 | CD2AP | 4.096 | DISEASES 1180 | CLCN1 | 1.55 | DISEASES 1183 | CLCN4 | 1.265 | DISEASES 23019 | CNOT1 | 1.196 | DISEASES 1565 | CYP2D6 | 1.093 | DISEASES 1576 | CYP3A4 | 1.278 | DISEASES 9681 | DEPDC5 | 1 | DISEASES 3301 | DNAJA1 | 1.775 | DISEASES 54788 | DNAJB12 | 2.016 | DISEASES 79982 | DNAJB14 | 3.199 | DISEASES 1804 | DPP6 | 1.824 | DISEASES 2274 | FHL2 | 1.493 | DISEASES 4303 | FOXO4 | 1.647 | DISEASES 2520 | GAST | 1.86 | DISEASES 2689 | GH2 | 1.621 | DISEASES 64785 | GINS3 | 1.793 | DISEASES 2764 | GMFB | 1.819 | DISEASES 2801 | GOLGA2 | 1.187 | DISEASES 56261 | GPCPD1 | 1.305 | DISEASES 2992 | GYG1 | 1.348 | DISEASES 3009 | HIST1H1B | 1.163 | DISEASES 3269 | HRH1 | 1.719 | DISEASES 3320 | HSP90AA1 | 1.963 | DISEASES 10265 | IRX5 | 1.5 | DISEASES 3736 | KCNA1 | 2.492 | DISEASES 3744 | KCNA10 | 3.026 | DISEASES 3738 | KCNA3 | 1.116 | DISEASES 3739 | KCNA4 | 3.663 | DISEASES 7881 | KCNAB1 | 1.5 | DISEASES 3745 | KCNB1 | 3.721 | DISEASES 9312 | KCNB2 | 2.701 | DISEASES 3751 | KCND2 | 3.711 | DISEASES 3753 | KCNE1 | 7.587 | DISEASES 3755 | KCNG1 | 2.169 | DISEASES 81033 | KCNH6 | 2.938 | DISEASES 30819 | KCNIP2 | 3.299 | DISEASES 3758 | KCNJ1 | 1.13 | DISEASES 3767 | KCNJ11 | 1.179 | DISEASES 3768 | KCNJ12 | 3.243 | DISEASES 3772 | KCNJ15 | 1.694 | DISEASES 3762 | KCNJ5 | 3.235 | DISEASES 3775 | KCNK1 | 2.308 | DISEASES 3785 | KCNQ2 | 3.511 | DISEASES 3786 | KCNQ3 | 3.682 | DISEASES 56479 | KCNQ5 | 3.479 | DISEASES 284252 | KCTD1 | 1.038 | DISEASES 378938 | MALAT1 | 1.766 | DISEASES 8972 | MGAM | 1.294 | DISEASES 440823 | MIAT | 1.735 | DISEASES 50488 | MINK1 | 2.77 | DISEASES 4357 | MPST | 1.133 | DISEASES 136319 | MTPN | 1.389 | DISEASES 4625 | MYH7 | 2.22 | DISEASES 85366 | MYLK2 | 2.749 | DISEASES 89796 | NAV1 | 3.725 | DISEASES 65009 | NDRG4 | 1.973 | DISEASES 10529 | NEBL | 1.595 | DISEASES 4734 | NEDD4 | 1.511 | DISEASES 23327 | NEDD4L | 3.079 | DISEASES 91624 | NEXN | 1.179 | DISEASES 23114 | NFASC | 2.288 | DISEASES 9722 | NOS1AP | 3.91 | DISEASES 594857 | NPS | 1.199 | DISEASES 55361 | PI4K2A | 2.94 | DISEASES 5293 | PIK3CD | 3.403 | DISEASES 5787 | PTPRB | 2.44 | DISEASES 5803 | PTPRZ1 | 2.185 | DISEASES 284119 | PTRF | 1.699 | DISEASES 5867 | RAB4A | 1.651 | DISEASES 25780 | RASGRP3 | 1.387 | DISEASES 196475 | RMST | 1.675 | DISEASES 388591 | RNF207 | 2.474 | DISEASES 6262 | RYR2 | 4.787 | DISEASES 6324 | SCN1B | 2.493 | DISEASES 6329 | SCN4A | 2.837 | DISEASES 6330 | SCN4B | 3.931 | DISEASES 6331 | SCN5A | 7.889 | DISEASES 6335 | SCN9A | 1.188 | DISEASES 6446 | SGK1 | 2.77 | DISEASES 6512 | SLC1A7 | 1.172 | DISEASES 6546 | SLC8A1 | 2.115 | DISEASES 26768 | SNORA73B | 1.573 | DISEASES 23673 | STX12 | 2.366 | DISEASES 57057 | TBX20 | 1.003 | DISEASES 7033 | TFF3 | 1.431 | DISEASES 7171 | TPM4 | 1.038 | DISEASES 7179 | TPTE | 3.196 | DISEASES 7327 | UBE2G2 | 2.465 | DISEASES 7453 | WARS | 3.428 | DISEASES 65267 | WNK3 | 1.638 | DISEASES 7485 | WRB | 1.016 | DISEASES 7709 | ZBTB17 | 2.368 | DISEASES 151126 | ZNF385B | 1.944 | DISEASES 100128252 | ZNF667-AS1 | 1.907 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 329 |
|---|---|
| Disease | long qt syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:7) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:4) C0039231 | tachycardia | 10 C0042510 | ventricular fibrillation | 5 C0039070 | syncope | 2 C0750197 | sustained ventricular tachycardia | 1 |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| SCN5A | NM_198056.2:c.3250G>A, NP_932173.1:p.Gly1084Ser | doi:10.1038/gim.2015.26 | Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:191) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893714 | 23541953 | 6331 | SCN5A | umls:C0023976 | BeFree | HEK-293 cells expressing SCN5A and LQT9 mutation Cav3-F97C resulted in a 2-fold increase in late INa compared to Cav3-WT. | 0.334978501 | 2013 | CAV3;SSUH2 | 3 | 8745701 | T | G |
| rs104893714 | 23541953 | 2042 | EPHA3 | umls:C0023976 | BeFree | HEK-293 cells expressing SCN5A and LQT9 mutation Cav3-F97C resulted in a 2-fold increase in late INa compared to Cav3-WT. | 0.000271442 | 2013 | CAV3;SSUH2 | 3 | 8745701 | T | G |
| rs120074177 | NA | 3784 | KCNQ1 | umls:C0023976 | CLINVAR | NA | 0.416510837 | NA | KCNQ1 | 11 | 2570682 | G | A,C |
| rs120074179 | NA | 3784 | KCNQ1 | umls:C0023976 | CLINVAR | NA | 0.416510837 | NA | KCNQ1 | 11 | 2572089 | G | A,C,T |
| rs120074179 | 12820704 | 3784 | KCNQ1 | umls:C0023976 | BeFree | The second mutation, V254M in KCNQ1, co-segregated with higher QT intervals and symptoms in other family members, and was previously reported in another LQTS family. | 0.416510837 | 2003 | KCNQ1 | 11 | 2572089 | G | A,C,T |
| rs120074184 | 19348785 | 3753 | KCNE1 | umls:C0023976 | BeFree | G314S, co-expressed with WT KCNQ1 and KCNE1, suppressed I(ks) currents in a dominant-negative manner, which is consistent with long QT syndrome in the members of the Chinese family carrying G314S KCNQ1 mutation. | 0.280000439 | 2009 | KCNQ1 | 11 | 2583453 | G | A,C,T |
| rs120074184 | 19348785 | 3784 | KCNQ1 | umls:C0023976 | BeFree | G314S, co-expressed with WT KCNQ1 and KCNE1, suppressed I(ks) currents in a dominant-negative manner, which is consistent with long QT syndrome in the members of the Chinese family carrying G314S KCNQ1 mutation. | 0.416510837 | 2009 | KCNQ1 | 11 | 2583453 | G | A,C,T |
| rs120074189 | 19959132 | 3784 | KCNQ1 | umls:C0023976 | BeFree | Trafficking-deficient long QT syndrome mutation KCNQ1-T587M confers severe clinical phenotype by impairment of KCNH2 membrane localization: evidence for clinically significant IKr-IKs alpha-subunit interaction. | 0.416510837 | 2009 | KCNQ1 | 11 | 2778003 | C | T |
| rs120074189 | 19959132 | 3757 | KCNH2 | umls:C0023976 | BeFree | The trafficking-deficient LQTS mutation KCNQ1-T587M fails to show the chaperoning function that enhances KCNH2 membrane localization with KCNQ1-WT. | 0.388482804 | 2009 | KCNQ1 | 11 | 2778003 | C | T |
| rs120074190 | 16754261 | 3784 | KCNQ1 | umls:C0023976 | BeFree | A total of six compound heterozygotes were identified who had the HERG R176W mutation in combination with a previously reported LQTS mutation (KCNQ1 G589D or IVS7-2A>G). | 0.416510837 | 2006 | KCNQ1 | 11 | 2778009 | G | A |
| rs120074192 | 12522251 | 3784 | KCNQ1 | umls:C0023976 | BeFree | Functional analysis of the S140G mutant revealed a gain-of-function effect on the KCNQ1/KCNE1 and the KCNQ1/KCNE2 currents, which contrasts with the dominant negative or loss-of-function effects of the KCNQ1 mutations previously identified in patients with long QT syndrome. | 0.416510837 | 2003 | KCNQ1 | 11 | 2527959 | A | G |
| rs120074192 | 12522251 | 3753 | KCNE1 | umls:C0023976 | BeFree | Functional analysis of the S140G mutant revealed a gain-of-function effect on the KCNQ1/KCNE1 and the KCNQ1/KCNE2 currents, which contrasts with the dominant negative or loss-of-function effects of the KCNQ1 mutations previously identified in patients with long QT syndrome. | 0.280000439 | 2003 | KCNQ1 | 11 | 2527959 | A | G |
| rs121912507 | 22876326 | 3757 | KCNH2 | umls:C0023976 | BeFree | Isoform-specific dominant-negative effects associated with hERG1 G628S mutation in long QT syndrome. | 0.388482804 | 2012 | KCNH2 | 7 | 150951511 | C | T,G |
| rs121912508 | 21376840 | 3757 | KCNH2 | umls:C0023976 | BeFree | The R582C mutation is one of many Long-QT Syndrome type 2 (LQT2)-causing mutations localized to the human ether-a-go-go related gene (hERG) channel's S5-P linker subdomain, yet its specific mechanism of dysfunction has not been examined. | 0.388482804 | 2011 | KCNH2 | 7 | 150951649 | G | A |
| rs121912511 | 12354768 | 3757 | KCNH2 | umls:C0023976 | BeFree | A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency. | 0.388482804 | 2002 | KCNH2 | 7 | 150974825 | T | G |
| rs121912512 | NA | 3757 | KCNH2 | umls:C0023976 | CLINVAR | NA | 0.388482804 | NA | KCNH2 | 7 | 150950311 | C | T |
| rs121912997 | NA | 1832 | DSP | umls:C0023976 | CLINVAR | NA | 0.12 | NA | DSP | 6 | 7579989 | C | T |
| rs121918602 | NA | 6262 | RYR2 | umls:C0023976 | CLINVAR | NA | 0.126905599 | NA | RYR2 | 1 | 237454396 | T | C |
| rs12720452 | 18071069 | 6331 | SCN5A | umls:C0023976 | BeFree | In contrast, in 6 of 60 women (10%), we identified 5 rare missense variants in SCN5A that either had been associated previously with long-QT syndrome (A572D and G615E), had been reported to alter sodium channel function (F2004L), or had not been reported previously in control populations (A572F and W1205C). | 0.334978501 | 2008 | SCN5A | 3 | 38603758 | C | T |
| rs12720459 | 17984373 | 3784 | KCNQ1 | umls:C0023976 | BeFree | The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification. | 0.416510837 | 2007 | KCNQ1 | 11 | 2583535 | C | A,G,T |
| rs12720459 | 25087618 | 3784 | KCNQ1 | umls:C0023976 | BeFree | Members of a South African LQTS-type 1 founder population (181 noncarriers and 168 mutation carriers) carrying the identical-by-descent KCNQ1 p.Ala341Val (A341V) mutation were evaluated for modifying effects of AKAP9 variants on heart rate-corrected QT interval (QTc), cardiac events, and disease severity. | 0.416510837 | 2015 | KCNQ1 | 11 | 2583535 | C | A,G,T |
| rs12720459 | 21854832 | 3784 | KCNQ1 | umls:C0023976 | BeFree | Partial restoration of the long QT syndrome associated KCNQ1 A341V mutant by the KCNE1 β-subunit. | 0.416510837 | 2011 | KCNQ1 | 11 | 2583535 | C | A,G,T |
| rs12720459 | 25634836 | 3784 | KCNQ1 | umls:C0023976 | BeFree | This study tested the hypothesis that vagal and sympathetic control, as assessed by spectral analysis of spontaneous beat-to-beat variability of RR and QT intervals from standard 24-h electrocardiogram Holter recordings, could modulate the severity of LQTS type 1 (LQT1) in 46 members of a South-African LQT1 founder population carrying the clinically severe KCNQ1 A341V mutation. | 0.416510837 | 2014 | KCNQ1 | 11 | 2583535 | C | A,G,T |
| rs12720459 | NA | 3784 | KCNQ1 | umls:C0023976 | CLINVAR | NA | 0.416510837 | NA | KCNQ1 | 11 | 2583535 | C | A,G,T |
| rs137854600 | 15184283 | 6331 | SCN5A | umls:C0023976 | BeFree | The surviving infant was found to have a heterozygous mutation in SCN5A (R1623Q), previously reported as a de novo mutation causing neonatal ventricular arrhythmia and LQTS. | 0.334978501 | 2004 | SCN5A | 3 | 38551504 | C | T,A |
| rs137854601 | 18451998 | 6331 | SCN5A | umls:C0023976 | BeFree | The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. | 0.334978501 | 2008 | SCN5A | 3 | 38551022 | C | T |
| rs137854601 | 24871449 | 6331 | SCN5A | umls:C0023976 | BeFree | High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands. | 0.334978501 | 2015 | SCN5A | 3 | 38551022 | C | T |
| rs137854614 | 16929919 | 6331 | SCN5A | umls:C0023976 | BeFree | Recently, two novel missense mutations at the same codon in the gene encoding the cardiac Na+ channel (SCN5A) have been identified: Y1795C (causing the LQTS phenotype) and Y1795H (causing the BrS phenotype). | 0.334978501 | 2006 | SCN5A | 3 | 38550988 | T | C |
| rs137854614 | 12814325 | 6331 | SCN5A | umls:C0023976 | BeFree | Interestingly another LQT-3 mutant (Y1795C) shows no change in flecainide sensitivity, suggesting that although drug effects of SCN5A mutations cross disease boundaries, clinical management with flecainide will be beneficial to patients in a mutation-specific manner. | 0.334978501 | 2003 | SCN5A | 3 | 38550988 | T | C |
| rs137854615 | 16929919 | 6331 | SCN5A | umls:C0023976 | BeFree | Recently, two novel missense mutations at the same codon in the gene encoding the cardiac Na+ channel (SCN5A) have been identified: Y1795C (causing the LQTS phenotype) and Y1795H (causing the BrS phenotype). | 0.334978501 | 2006 | SCN5A | 3 | 38550989 | A | G |
| rs137854619 | NA | 6331 | SCN5A | umls:C0023976 | CLINVAR | NA | 0.334978501 | NA | SCN5A | 3 | 38550917 | C | T |
| rs138498207 | NA | 3757 | KCNH2 | umls:C0023976 | CLINVAR | NA | 0.388482804 | NA | KCNH2 | 7 | 150950195 | G | A |
| rs140452381 | NA | 3784 | KCNQ1 | umls:C0023976 | CLINVAR | NA | 0.416510837 | NA | KCNQ1 | 11 | 2588815 | C | T |
| rs141423405 | NA | 9992 | KCNE2 | umls:C0023976 | CLINVAR | NA | 0.272085018 | NA | KCNE2;LOC105372791 | 21 | 34370707 | C | T |
| rs142511345 | NA | 3753 | KCNE1 | umls:C0023976 | CLINVAR | NA | 0.280000439 | NA | KCNE1 | 21 | 34449261 | G | A |
| rs143512106 | NA | 3757 | KCNH2 | umls:C0023976 | CLINVAR | NA | 0.388482804 | NA | KCNH2 | 7 | 150948483 | G | A,T |
| rs144022753 | NA | 3759 | KCNJ2 | umls:C0023976 | CLINVAR | NA | 0.127719925 | NA | KCNJ2 | 17 | 70176238 | C | G,T |
| rs144917638 | NA | 3753 | KCNE1 | umls:C0023976 | CLINVAR | NA | 0.280000439 | NA | KCNE1 | 21 | 34449606 | G | A |
| rs145974930 | NA | 3784 | KCNQ1 | umls:C0023976 | CLINVAR | NA | 0.416510837 | NA | KCNQ1 | 11 | 2768882 | G | A,C |
| rs148968498 | NA | 9992 | KCNE2 | umls:C0023976 | CLINVAR | NA | 0.272085018 | NA | KCNE2;LOC105372791 | 21 | 34370558 | G | A |
| rs149955375 | NA | 3757 | KCNH2 | umls:C0023976 | CLINVAR | NA | 0.388482804 | NA | KCNH2 | 7 | 150947623 | G | A |
| rs150172393 | NA | 3784 | KCNQ1 | umls:C0023976 | CLINVAR | NA | 0.416510837 | NA | KCNQ1 | 11 | 2570733 | C | T |
| rs151344631 | 18580685 | 3784 | KCNQ1 | umls:C0023976 | BeFree | A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact. | 0.416510837 | 2008 | KCNQ1 | 11 | 2571333 | G | A |
| rs151344631 | 23844633 | 3784 | KCNQ1 | umls:C0023976 | BeFree | Two First Nations communities in northern British Columbia are affected disproportionately with LQTS largely due to the V205M mutation in KCNQ1, however, the pathology and phenotypic expression for those V205M homozygous has been unknown. | 0.416510837 | 2013 | KCNQ1 | 11 | 2571333 | G | A |
| rs151344631 | NA | 3784 | KCNQ1 | umls:C0023976 | CLINVAR | NA | 0.416510837 | NA | KCNQ1 | 11 | 2571333 | G | A |
| rs17215500 | NA | 3784 | KCNQ1 | umls:C0023976 | CLINVAR | NA | 0.416510837 | NA | KCNQ1 | 11 | 2768881 | C | G,T |
| rs17215500 | 24552659 | 3784 | KCNQ1 | umls:C0023976 | BeFree | Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families. | 0.416510837 | 2014 | KCNQ1 | 11 | 2768881 | C | G,T |
| rs1800171 | NA | 3784 | KCNQ1 | umls:C0023976 | CLINVAR | NA | 0.416510837 | NA | KCNQ1 | 11 | 2583545 | G | A,C |
| rs1800172 | 16723781 | 3784 | KCNQ1 | umls:C0023976 | BeFree | The KCNQ1 single nucleotide polymorphism (SNP), G643S, is known to be associated with secondary long QT syndrome (LQTS) and to cause a mild reduction in KCNQ1 current. | 0.416510837 | 2006 | KCNQ1;KCNQ1-AS1 | 11 | 2847899 | G | A |
| rs1805123 | 18808722 | 3757 | KCNH2 | umls:C0023976 | BeFree | Furthermore, in another LQTS family we found that KCNH2 mutation A490T co-segregated with a common SNP K897T in KCNH2. | 0.388482804 | 2008 | KCNH2 | 7 | 150948446 | T | G,A |
| rs1805123 | 20181576 | 3757 | KCNH2 | umls:C0023976 | BeFree | Our data suggest that a common polymorphism (K897T) can markedly accentuate the loss of function of mildly defective HERG channels, leading to long-QT syndrome-mediated arrhythmias and sudden infant death. | 0.388482804 | 2010 | KCNH2 | 7 | 150948446 | T | G,A |
| rs1805128 | NA | 3753 | KCNE1 | umls:C0023976 | CLINVAR | NA | 0.280000439 | NA | KCNE1 | 21 | 34449382 | C | T |
| rs1805128 | 24499369 | 3753 | KCNE1 | umls:C0023976 | BeFree | Instability of KCNE1-D85N that causes long QT syndrome: stabilization by verapamil. | 0.280000439 | 2013 | KCNE1 | 21 | 34449382 | C | T |
| rs1805128 | 19695459 | 3753 | KCNE1 | umls:C0023976 | BeFree | D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome. | 0.280000439 | 2009 | KCNE1 | 21 | 34449382 | C | T |
| rs1805128 | 21244686 | 3784 | KCNQ1 | umls:C0023976 | BeFree | The common KCNE1 D85N potassium channel variant prolongs QT interval by inhibiting IKs (KCNQ1) and IKr (KCNH2) currents and is therefore a suitable candidate for a modifier gene in LQTS. | 0.416510837 | 2011 | KCNE1 | 21 | 34449382 | C | T |
| rs1805128 | 22999324 | 3753 | KCNE1 | umls:C0023976 | BeFree | Screening of the genotype disclosed the KCNE1 D85N polymorphism, which is known as one of the typical disease-causing gene variants in long-QT syndrome (LQTS). | 0.280000439 | 2012 | KCNE1 | 21 | 34449382 | C | T |
| rs1805128 | 21244686 | 3757 | KCNH2 | umls:C0023976 | BeFree | The common KCNE1 D85N potassium channel variant prolongs QT interval by inhibiting IKs (KCNQ1) and IKr (KCNH2) currents and is therefore a suitable candidate for a modifier gene in LQTS. | 0.388482804 | 2011 | KCNE1 | 21 | 34449382 | C | T |
| rs1805128 | 21244686 | 3753 | KCNE1 | umls:C0023976 | BeFree | KCNE1 D85N polymorphism--a sex-specific modifier in type 1 long QT syndrome? | 0.280000439 | 2011 | KCNE1 | 21 | 34449382 | C | T |
| rs184442491 | NA | 6331 | SCN5A | umls:C0023976 | CLINVAR | NA | 0.334978501 | NA | SCN5A | 3 | 38603888 | C | A |
| rs193922365 | NA | 3784 | KCNQ1 | umls:C0023976 | CLINVAR | NA | 0.416510837 | NA | KCNQ1 | 11 | 2572970 | C | A,T |
| rs199472678 | 21129503 | 3784 | KCNQ1 | umls:C0023976 | BeFree | Origin of the Swedish long QT syndrome Y111C/KCNQ1 founder mutation. | 0.416510837 | 2011 | KCNQ1;LOC105376521 | 11 | 2445430 | A | G |
| rs199472678 | 20031635 | 3784 | KCNQ1 | umls:C0023976 | BeFree | We identified 80 mutation carriers in 15 index families, segregating the Y111C-KCNQ1 mutation during a national inventory of mutations causing the long-QT syndrome. | 0.416510837 | 2009 | KCNQ1;LOC105376521 | 11 | 2445430 | A | G |
| rs199472688 | 20167303 | 3784 | KCNQ1 | umls:C0023976 | BeFree | Point mutation tests for previously identified familial LQTS mutations revealed a positive result in both cases: E146K in KCNQ1 and exon 6-4del in KCNH2. | 0.416510837 | 2010 | KCNQ1 | 11 | 2527977 | G | A |
| rs199472690 | 10220146 | 3784 | KCNQ1 | umls:C0023976 | BeFree | The sensitivity of the method was 100% when 34 different point mutations were analyzed, including two previously unpublished LQTS-associated mutations (F157C in KVLQT1 and G572R in HERG), as well as eight novel normal variants in HERG and MYH7. | 0.416510837 | 1999 | KCNQ1 | 11 | 2528011 | T | G |
| rs199472690 | 10220146 | 3757 | KCNH2 | umls:C0023976 | BeFree | The sensitivity of the method was 100% when 34 different point mutations were analyzed, including two previously unpublished LQTS-associated mutations (F157C in KVLQT1 and G572R in HERG), as well as eight novel normal variants in HERG and MYH7. | 0.388482804 | 1999 | KCNQ1 | 11 | 2528011 | T | G |
| rs199472690 | 10220146 | 4625 | MYH7 | umls:C0023976 | BeFree | The sensitivity of the method was 100% when 34 different point mutations were analyzed, including two previously unpublished LQTS-associated mutations (F157C in KVLQT1 and G572R in HERG), as well as eight novel normal variants in HERG and MYH7. | 0.000271442 | 1999 | KCNQ1 | 11 | 2528011 | T | G |
| rs199472709 | NA | 3784 | KCNQ1 | umls:C0023976 | CLINVAR | NA | 0.416510837 | NA | KCNQ1 | 11 | 2572021 | G | A |
| rs199472713 | NA | 3784 | KCNQ1 | umls:C0023976 | CLINVAR | NA | 0.416510837 | NA | KCNQ1 | 11 | 2572056 | C | A,T |
| rs199472715 | 10874277 | 3784 | KCNQ1 | umls:C0023976 | BeFree | A novel mutation in KVLQT1, L122P, found in a family with autosomal dominant long QT syndrome. | 0.416510837 | 2000 | KCNQ1 | 11 | 2572078 | T | A,C |
| rs199472716 | 12710526 | 3784 | KCNQ1 | umls:C0023976 | BeFree | Biophysical characteristics of a new mutation on the KCNQ1 potassium channel (L251P) causing long QT syndrome. | 0.416510837 | 2003 | KCNQ1 | 11 | 2572081 | T | C |
| rs199472729 | 19167356 | 3784 | KCNQ1 | umls:C0023976 | BeFree | We previously identified a missense mutation F275S located within the S5 transmembrane domain of the KCNQ1 ion channel in a Chinese family with long QT syndrome. | 0.416510837 | 2009 | KCNQ1 | 11 | 2572889 | T | C |
| rs199472730 | NA | 3784 | KCNQ1 | umls:C0023976 | CLINVAR | NA | 0.416510837 | NA | KCNQ1 | 11 | 2572895 | C | G,T |
| rs199472730 | 21241800 | 3784 | KCNQ1 | umls:C0023976 | BeFree | Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability. | 0.416510837 | 2011 | KCNQ1 | 11 | 2572895 | C | G,T |
| rs199472737 | NA | 3784 | KCNQ1 | umls:C0023976 | CLINVAR | NA | 0.416510837 | NA | KCNQ1 | 11 | 2572942 | C | T |
| rs199472749 | 20981542 | 3784 | KCNQ1 | umls:C0023976 | BeFree | Three generations of hereditary long-QT syndrome with complete penetrance caused by the p.G316E KCNQ1 mutation. | 0.416510837 | 2011 | KCNQ1 | 11 | 2583460 | G | A,T |
| rs199472755 | NA | 3784 | KCNQ1 | umls:C0023976 | CLINVAR | NA | 0.416510837 | NA | KCNQ1 | 11 | 2583478 | C | A,G,T |
| rs199472771 | NA | 3784 | KCNQ1 | umls:C0023976 | CLINVAR | NA | 0.416510837 | NA | KCNQ1 | 11 | 2587581 | G | T |
| rs199472776 | 23571586 | 3784 | KCNQ1 | umls:C0023976 | BeFree | Both KV7.1-A283T (16-week male) and KV7.1-R397W (16-week female) mutations were associated with marked KV7.1 loss-of-function consistent with in utero LQTS type 1, whereas the HERG1b-R25W mutation (33.2-week male) exhibited a loss of function consistent with in utero LQTS type 2. | 0.416510837 | 2013 | KCNQ1 | 11 | 2587630 | C | G,T |
| rs199472776 | NA | 3784 | KCNQ1 | umls:C0023976 | CLINVAR | NA | 0.416510837 | NA | KCNQ1 | 11 | 2587630 | C | G,T |
| rs199472792 | NA | 3784 | KCNQ1 | umls:C0023976 | CLINVAR | NA | 0.416510837 | NA | KCNQ1 | 11 | 2768905 | A | C,G |
| rs199472804 | NA | 3784 | KCNQ1 | umls:C0023976 | CLINVAR | NA | 0.416510837 | NA | KCNQ1 | 11 | 2776997 | C | A,T |
| rs199472830 | 24606995 | 3757 | KCNH2 | umls:C0023976 | BeFree | Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. | 0.388482804 | 2014 | KCNH2 | 7 | 150974931 | G | T |
| rs199472862 | 15043509 | 3757 | KCNH2 | umls:C0023976 | BeFree | Probucol aggravates long QT syndrome associated with a novel missense mutation M124T in the N-terminus of HERG. | 0.388482804 | 2004 | KCNH2 | 7 | 150959673 | A | G,C |
| rs199472862 | 16029385 | 3757 | KCNH2 | umls:C0023976 | BeFree | Clinical, genetic, and electrophysiologic characteristics of a new PAS-domain HERG mutation (M124R) causing Long QT syndrome. | 0.388482804 | 2005 | KCNH2 | 7 | 150959673 | A | G,C |
| rs199472864 | NA | 3757 | KCNH2 | umls:C0023976 | CLINVAR | NA | 0.388482804 | NA | KCNH2 | 7 | 150959622 | G | A |
| rs199472884 | NA | 3757 | KCNH2 | umls:C0023976 | CLINVAR | NA | 0.388482804 | NA | KCNH2 | 7 | 150958059 | C | G,A |
| rs199472885 | NA | 3757 | KCNH2 | umls:C0023976 | CLINVAR | NA | 0.388482804 | NA | KCNH2 | 7 | 150957485 | G | A |
| rs199472904 | 19215240 | 3757 | KCNH2 | umls:C0023976 | BeFree | HERG-F463L potassium channels linked to long QT syndrome reduce I(Kr) current by a trafficking-deficient mechanism. | 0.388482804 | 2009 | KCNH2 | 7 | 150952595 | A | G |
| rs199472924 | 10744792 | 3757 | KCNH2 | umls:C0023976 | BeFree | The distinct HERG missense mutation L564P causes long QT syndrome in one French Canadian family. | 0.388482804 | 2000 | KCNH2 | 7 | 150951702 | A | G |
| rs199472934 | NA | 3757 | KCNH2 | umls:C0023976 | CLINVAR | NA | 0.388482804 | NA | KCNH2 | 7 | 150951603 | T | C |
| rs199472942 | NA | 3757 | KCNH2 | umls:C0023976 | CLINVAR | NA | 0.388482804 | NA | KCNH2 | 7 | 150951562 | A | G,C |
| rs199472946 | NA | 3757 | KCNH2 | umls:C0023976 | CLINVAR | NA | 0.388482804 | NA | KCNH2 | 7 | 150951546 | T | C |
| rs199472968 | 12062363 | 3757 | KCNH2 | umls:C0023976 | BeFree | Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome. | 0.388482804 | 2002 | KCNH2 | 7 | 150951484 | C | T |
| rs199472988 | NA | 3757 | KCNH2 | umls:C0023976 | CLINVAR | NA | 0.388482804 | NA | KCNH2 | 7 | 150950362 | G | A |
| rs199473025 | NA | 3757 | KCNH2 | umls:C0023976 | CLINVAR | NA | 0.388482804 | NA | KCNH2 | 7 | 150947347 | G | A |
| rs199473028 | NA | 3757 | KCNH2 | umls:C0023976 | CLINVAR | NA | 0.388482804 | NA | KCNH2 | 7 | 150946983 | G | A |
| rs199473084 | NA | 6331 | SCN5A | umls:C0023976 | CLINVAR | NA | 0.334978501 | NA | SCN5A | 3 | 38609803 | C | T |
| rs199473133 | 12673799 | 6331 | SCN5A | umls:C0023976 | BeFree | A novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating. | 0.334978501 | 2003 | SCN5A | 3 | 38603747 | G | A |
| rs199473133 | NA | 6331 | SCN5A | umls:C0023976 | CLINVAR | NA | 0.334978501 | NA | SCN5A | 3 | 38603747 | G | A |
| rs199473136 | NA | 6331 | SCN5A | umls:C0023976 | CLINVAR | NA | 0.334978501 | NA | SCN5A | 3 | 38599026 | C | T,G |
| rs199473145 | NA | 6331 | SCN5A | umls:C0023976 | CLINVAR | NA | 0.334978501 | NA | SCN5A | 3 | 38597925 | C | T |
| rs199473147 | NA | 6331 | SCN5A | umls:C0023976 | CLINVAR | NA | 0.334978501 | NA | SCN5A | 3 | 38597889 | G | A |
| rs199473192 | NA | 6331 | SCN5A | umls:C0023976 | CLINVAR | NA | 0.334978501 | NA | SCN5A | 3 | 38579425 | G | A |
| rs199473203 | 18071069 | 6331 | SCN5A | umls:C0023976 | BeFree | In contrast, in 6 of 60 women (10%), we identified 5 rare missense variants in SCN5A that either had been associated previously with long-QT syndrome (A572D and G615E), had been reported to alter sodium channel function (F2004L), or had not been reported previously in control populations (A572F and W1205C). | 0.334978501 | 2008 | SCN5A | 3 | 38575345 | C | A |
| rs199473293 | NA | 6331 | SCN5A | umls:C0023976 | CLINVAR | NA | 0.334978501 | NA | SCN5A | 3 | 38551373 | C | T,G |
| rs199473311 | 12695286 | 6331 | SCN5A | umls:C0023976 | BeFree | An example presented here, the SCN5A LQTS mutant I1768V, does not act to increase Isus (<0.1% of peak) compared with wild-type (WT) channels. | 0.334978501 | 2003 | SCN5A | 3 | 38551070 | T | C |
| rs199473315 | 24599044 | 6331 | SCN5A | umls:C0023976 | BeFree | Flecainide provocation reveals concealed brugada syndrome in a long QT syndrome family with a novel L1786Q mutation in SCN5A. | 0.334978501 | 2015 | SCN5A | 3 | 38551015 | A | T |
| rs199473321 | 10627139 | 6331 | SCN5A | umls:C0023976 | BeFree | Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome. Mutations in brief no. 153. Online. | 0.334978501 | 1998 | SCN5A | 3 | 38550856 | T | C |
| rs199473348 | NA | 3753 | KCNE1 | umls:C0023976 | CLINVAR | NA | 0.280000439 | NA | KCNE1 | 21 | 34449612 | G | T,A |
| rs199473354 | 14499862 | 3753 | KCNE1 | umls:C0023976 | BeFree | A novel missense mutation, G to A at position 154 in the KCNE1 gene was identified in a Chinese Long QT syndrome family, which leads to an amino acid substitution of arginine (R) for glycine (G) at position 52 (G52R-KCNE1). | 0.280000439 | 2003 | KCNE1 | 21 | 34449481 | C | T |
| rs199473362 | NA | 3753 | KCNE1 | umls:C0023976 | CLINVAR | NA | 0.280000439 | NA | KCNE1 | 21 | 34449343 | G | T,A |
| rs199473365 | NA | 9992 | KCNE2 | umls:C0023976 | CLINVAR | NA | 0.272085018 | NA | KCNE2;LOC105372791 | 21 | 34370708 | G | A |
| rs199473394 | NA | 3784 | KCNQ1 | umls:C0023976 | CLINVAR | NA | 0.416510837 | NA | KCNQ1 | 11 | 2570685 | G | A |
| rs199473405 | 21952006 | 3784 | KCNQ1 | umls:C0023976 | BeFree | Arrhythmia formation in subclinical (silent) long QT syndrome requires multiple insults: quantitative mechanistic study using the KCNQ1 mutation Q357R as example. | 0.416510837 | 2012 | KCNQ1 | 11 | 2585249 | A | G |
| rs199473411 | NA | 3784 | KCNQ1 | umls:C0023976 | CLINVAR | NA | 0.416510837 | NA | KCNQ1 | 11 | 2585275 | C | T |
| rs199473432 | NA | 3757 | KCNH2 | umls:C0023976 | CLINVAR | NA | 0.388482804 | NA | KCNH2 | 7 | 150948476 | C | T |
| rs199473438 | NA | 3757 | KCNH2 | umls:C0023976 | CLINVAR | NA | 0.388482804 | NA | KCNH2 | 7 | 150947813 | G | C,A |
| rs199473454 | 12653681 | 3784 | KCNQ1 | umls:C0023976 | BeFree | Clinical and electrophysiological characterization of a novel mutation (F193L) in the KCNQ1 gene associated with long QT syndrome. | 0.416510837 | 2003 | KCNQ1 | 11 | 2570729 | T | A |
| rs199473460 | NA | 3784 | KCNQ1 | umls:C0023976 | CLINVAR | NA | 0.416510837 | NA | KCNQ1 | 11 | 2572862 | T | C |
| rs199473460 | 19817925 | 3784 | KCNQ1 | umls:C0023976 | BeFree | Genetic testing in this LQTS population suggests a common KCNQ1 Leu266Pro founder effect, with the descendants clustering in our geographical region even though no common relative has been identified. | 0.416510837 | 2010 | KCNQ1 | 11 | 2572862 | T | C |
| rs199473466 | 16754261 | 3784 | KCNQ1 | umls:C0023976 | BeFree | A total of six compound heterozygotes were identified who had the HERG R176W mutation in combination with a previously reported LQTS mutation (KCNQ1 G589D or IVS7-2A>G). | 0.416510837 | 2006 | KCNQ1 | 11 | 2572975 | T | C |
| rs199473471 | NA | 3784 | KCNQ1 | umls:C0023976 | CLINVAR | NA | 0.416510837 | NA | KCNQ1 | 11 | 2585212 | G | A,C |
| rs199473479 | 17482572 | 805 | CALM2 | umls:C0023976 | BeFree | We identified the missense mutation M520R in the calmodulin binding domain of the Kv7.1 channel from a German family with long QT-syndrome. | 0.001085767 | 2007 | KCNQ1 | 11 | 2768888 | T | G |
| rs199473479 | 17482572 | 808 | CALM3 | umls:C0023976 | BeFree | We identified the missense mutation M520R in the calmodulin binding domain of the Kv7.1 channel from a German family with long QT-syndrome. | 0.001085767 | 2007 | KCNQ1 | 11 | 2768888 | T | G |
| rs199473479 | 17482572 | 3784 | KCNQ1 | umls:C0023976 | BeFree | We identified the missense mutation M520R in the calmodulin binding domain of the Kv7.1 channel from a German family with long QT-syndrome. | 0.416510837 | 2007 | KCNQ1 | 11 | 2768888 | T | G |
| rs199473479 | 17482572 | 801 | CALM1 | umls:C0023976 | BeFree | We identified the missense mutation M520R in the calmodulin binding domain of the Kv7.1 channel from a German family with long QT-syndrome. | 0.001085767 | 2007 | KCNQ1 | 11 | 2768888 | T | G |
| rs199473506 | 19136169 | 3757 | KCNH2 | umls:C0023976 | BeFree | Novel mutation (H402R) in the S1 domain of KCNH2-encoded gene associated with long QT syndrome in a Spanish family. | 0.388482804 | 2010 | KCNH2 | 7 | 150952777 | T | C |
| rs199473532 | NA | 3757 | KCNH2 | umls:C0023976 | CLINVAR | NA | 0.388482804 | NA | KCNH2 | 7 | 150950935 | T | C |
| rs199473572 | NA | 6331 | SCN5A | umls:C0023976 | CLINVAR | NA | 0.334978501 | NA | SCN5A | 3 | 38604863 | C | T |
| rs199473603 | 17210841 | 6331 | SCN5A | umls:C0023976 | BeFree | Five variants (S216L, T1304M, F1486L, F2004L, and P2006A) exhibited significantly increased persistent sodium currents (range, 0.5% to 1.7% of peak current) typical of SCN5A mutations associated with long-QT syndrome. | 0.334978501 | 2007 | SCN5A | 3 | 38562467 | G | A |
| rs199473603 | NA | 6331 | SCN5A | umls:C0023976 | CLINVAR | NA | 0.334978501 | NA | SCN5A | 3 | 38562467 | G | A |
| rs199473604 | 19302788 | 6331 | SCN5A | umls:C0023976 | BeFree | Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome. | 0.334978501 | 2009 | SCN5A | 3 | 38560394 | G | T |
| rs199473615 | 17210841 | 6331 | SCN5A | umls:C0023976 | BeFree | Five variants (S216L, T1304M, F1486L, F2004L, and P2006A) exhibited significantly increased persistent sodium currents (range, 0.5% to 1.7% of peak current) typical of SCN5A mutations associated with long-QT syndrome. | 0.334978501 | 2007 | SCN5A | 3 | 38555742 | A | G |
| rs199473618 | NA | 6331 | SCN5A | umls:C0023976 | CLINVAR | NA | 0.334978501 | NA | SCN5A | 3 | 38554498 | C | T,A |
| rs199473631 | 23998552 | 79727 | LIN28A | umls:C0023976 | BeFree | Dermal fibroblasts obtained from a patient with LQT3 harboring a SCN5A mutation (c.5287G>A; p.V1763M) were reprogrammed to hiPSCs via repeated transfection of mRNA encoding OCT-4, SOX-2, KLF-4, C-MYC and LIN-28. | 0.000271442 | 2013 | SCN5A | 3 | 38551085 | C | T |
| rs199473631 | 23998552 | 5460 | POU5F1 | umls:C0023976 | BeFree | Dermal fibroblasts obtained from a patient with LQT3 harboring a SCN5A mutation (c.5287G>A; p.V1763M) were reprogrammed to hiPSCs via repeated transfection of mRNA encoding OCT-4, SOX-2, KLF-4, C-MYC and LIN-28. | 0.000271442 | 2013 | SCN5A | 3 | 38551085 | C | T |
| rs199473631 | 23998552 | 4609 | MYC | umls:C0023976 | BeFree | Dermal fibroblasts obtained from a patient with LQT3 harboring a SCN5A mutation (c.5287G>A; p.V1763M) were reprogrammed to hiPSCs via repeated transfection of mRNA encoding OCT-4, SOX-2, KLF-4, C-MYC and LIN-28. | 0.000271442 | 2013 | SCN5A | 3 | 38551085 | C | T |
| rs199473634 | NA | 6331 | SCN5A | umls:C0023976 | CLINVAR | NA | 0.334978501 | NA | SCN5A | 3 | 38551036 | G | A |
| rs199473648 | NA | 9992 | KCNE2 | umls:C0023976 | CLINVAR | NA | 0.272085018 | NA | KCNE2;LOC105372791 | 21 | 34370507 | C | T |
| rs199830292 | 23872692 | 3762 | KCNJ5 | umls:C0023976 | BeFree | The phenotype characteristics of type 13 long QT syndrome with mutation in KCNJ5 (Kir3.4-G387R). | 0.000542884 | 2014 | KCNJ5 | 11 | 128916630 | G | C |
| rs201002736 | 17210841 | 6331 | SCN5A | umls:C0023976 | BeFree | Five variants (S216L, T1304M, F1486L, F2004L, and P2006A) exhibited significantly increased persistent sodium currents (range, 0.5% to 1.7% of peak current) typical of SCN5A mutations associated with long-QT syndrome. | 0.334978501 | 2007 | SCN5A | 3 | 38614031 | G | A,T |
| rs267607276 | 26309258 | 801 | CALM1 | umls:C0023976 | BeFree | Here, we investigated the effect of CaM mutations causing CPVT (N53I), long QT syndrome (D95V and D129G), or both (CaM N97S) on RyR2-mediated Ca(2+) release. | 0.001085767 | 2016 | CALM1 | 14 | 90401385 | A | T |
| rs267607277 | 26309258 | 801 | CALM1 | umls:C0023976 | BeFree | Here, we investigated the effect of CaM mutations causing CPVT (N53I), long QT syndrome (D95V and D129G), or both (CaM N97S) on RyR2-mediated Ca(2+) release. | 0.001085767 | 2016 | CALM1 | 14 | 90404386 | A | G |
| rs28928905 | 18808722 | 3757 | KCNH2 | umls:C0023976 | BeFree | Furthermore, in another LQTS family we found that KCNH2 mutation A490T co-segregated with a common SNP K897T in KCNH2. | 0.388482804 | 2008 | KCNH2 | 7 | 150952514 | C | T,G |
| rs28928905 | 11170080 | 3757 | KCNH2 | umls:C0023976 | BeFree | We report a case of a novel HERG mutation (A490T) that caused a bradycardia-associated form of long QT syndrome. | 0.388482804 | 2001 | KCNH2 | 7 | 150952514 | C | T,G |
| rs28937317 | 19762097 | 6331 | SCN5A | umls:C0023976 | BeFree | Our findings revealed for the first time that the LQTS mutation N1325S in SCN5A causes cardiac fibrosis and contractile dysfunction in mice, possibly through cellular mechanisms involving aberrant cardiomyocyte apoptosis. | 0.334978501 | 2011 | SCN5A | 3 | 38560418 | T | C |
| rs36210422 | 16754261 | 3757 | KCNH2 | umls:C0023976 | BeFree | The HERG R176W mutation represents a population-prevalent mutation predisposing to LQTS. | 0.388482804 | 2006 | KCNH2 | 7 | 150958449 | G | A |
| rs36210422 | NA | 3757 | KCNH2 | umls:C0023976 | CLINVAR | NA | 0.388482804 | NA | KCNH2 | 7 | 150958449 | G | A |
| rs36210422 | 16754261 | 3784 | KCNQ1 | umls:C0023976 | BeFree | A total of six compound heterozygotes were identified who had the HERG R176W mutation in combination with a previously reported LQTS mutation (KCNQ1 G589D or IVS7-2A>G). | 0.416510837 | 2006 | KCNH2 | 7 | 150958449 | G | A |
| rs36210423 | 18071069 | 6331 | SCN5A | umls:C0023976 | BeFree | In contrast, in 6 of 60 women (10%), we identified 5 rare missense variants in SCN5A that either had been associated previously with long-QT syndrome (A572D and G615E), had been reported to alter sodium channel function (F2004L), or had not been reported previously in control populations (A572F and W1205C). | 0.334978501 | 2008 | SCN5A | 3 | 38603887 | G | T,C,A |
| rs377095107 | NA | 3757 | KCNH2 | umls:C0023976 | CLINVAR | NA | 0.388482804 | NA | KCNH2 | 7 | 150947341 | G | A |
| rs397508070 | NA | 3784 | KCNQ1 | umls:C0023976 | CLINVAR | NA | 0.416510837 | NA | KCNQ1 | 11 | 2583546 | G | A |
| rs397508097 | NA | 3784 | KCNQ1 | umls:C0023976 | CLINVAR | NA | 0.416510837 | NA | KCNQ1 | 11 | 2768917 | C | T |
| rs397508119 | 12653681 | 3784 | KCNQ1 | umls:C0023976 | BeFree | Clinical and electrophysiological characterization of a novel mutation (F193L) in the KCNQ1 gene associated with long QT syndrome. | 0.416510837 | 2003 | KCNQ1 | 11 | 2570727 | T | C |
| rs41261344 | 22682427 | 6331 | SCN5A | umls:C0023976 | BeFree | It was reported that the R1193Q polymorphism in the SCN5A gene destabilizes channel inactivation and may be a risk factor for Brugada and long QT syndrome. | 0.334978501 | 2012 | SCN5A | 3 | 38575385 | C | T |
| rs41311117 | 18071069 | 6331 | SCN5A | umls:C0023976 | BeFree | In contrast, in 6 of 60 women (10%), we identified 5 rare missense variants in SCN5A that either had been associated previously with long-QT syndrome (A572D and G615E), had been reported to alter sodium channel function (F2004L), or had not been reported previously in control populations (A572F and W1205C). | 0.334978501 | 2008 | SCN5A | 3 | 38550362 | A | C,G,T |
| rs41311117 | 17210841 | 6331 | SCN5A | umls:C0023976 | BeFree | Five variants (S216L, T1304M, F1486L, F2004L, and P2006A) exhibited significantly increased persistent sodium currents (range, 0.5% to 1.7% of peak current) typical of SCN5A mutations associated with long-QT syndrome. | 0.334978501 | 2007 | SCN5A | 3 | 38550362 | A | C,G,T |
| rs45454496 | NA | 287 | ANK2 | umls:C0023976 | CLINVAR | NA | 0.129358507 | NA | ANK2 | 4 | 113373381 | G | A |
| rs45465995 | NA | 6331 | SCN5A | umls:C0023976 | CLINVAR | NA | 0.334978501 | NA | SCN5A | 3 | 38550683 | G | A |
| rs45475899 | NA | 6331 | SCN5A | umls:C0023976 | CLINVAR | NA | 0.334978501 | NA | SCN5A | 3 | 38585981 | C | T |
| rs45488304 | 12673799 | 6331 | SCN5A | umls:C0023976 | BeFree | A novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating. | 0.334978501 | 2003 | SCN5A | 3 | 38603750 | G | A |
| rs45489199 | 17210841 | 6331 | SCN5A | umls:C0023976 | BeFree | Five variants (S216L, T1304M, F1486L, F2004L, and P2006A) exhibited significantly increased persistent sodium currents (range, 0.5% to 1.7% of peak current) typical of SCN5A mutations associated with long-QT syndrome. | 0.334978501 | 2007 | SCN5A | 3 | 38550356 | G | C |
| rs45570339 | NA | 287 | ANK2 | umls:C0023976 | CLINVAR | NA | 0.129358507 | NA | ANK2 | 4 | 113363442 | C | G |
| rs56157422 | NA | 6640 | SNTA1 | umls:C0023976 | CLINVAR | NA | 0.12554839 | NA | SNTA1 | 20 | 33412714 | G | A,C |
| rs66785829 | NA | 287 | ANK2 | umls:C0023976 | CLINVAR | NA | 0.129358507 | NA | ANK2 | 4 | 113365051 | T | A |
| rs72544141 | NA | 287 | ANK2 | umls:C0023976 | CLINVAR | NA | 0.129358507 | NA | ANK2 | 4 | 113348277 | A | G |
| rs72546668 | NA | 859 | CAV3 | umls:C0023976 | CLINVAR | NA | 0.121628651 | NA | CAV3;SSUH2 | 3 | 8745644 | C | A,T |
| rs72549410 | NA | 6331 | SCN5A | umls:C0023976 | CLINVAR | NA | 0.334978501 | NA | SCN5A | 3 | 38606058 | C | T |
| rs72552293 | NA | 23171 | GPD1L | umls:C0023976 | CLINVAR | NA | 0.12 | NA | GPD1L | 3 | 32140231 | A | G |
| rs74315447 | 23631727 | 9992 | KCNE2 | umls:C0023976 | BeFree | An LQTS registry search identified a 55-year male with M54T MiRP1 mutation, history of sinus bradycardia (39-56 bpm), and prolonged QTc. | 0.272085018 | 2013 | KCNE2;LOC105372791 | 21 | 34370639 | T | C |
| rs74315449 | NA | 9992 | KCNE2 | umls:C0023976 | CLINVAR | NA | 0.272085018 | NA | KCNE2;LOC105372791 | 21 | 34370557 | C | T |
| rs755287627 | NA | 287 | ANK2 | umls:C0023976 | CLINVAR | NA | 0.129358507 | NA | ANK2 | 4 | 113353494 | A | G |
| rs786204101 | NA | 3757 | KCNH2 | umls:C0023976 | CLINVAR | NA | 0.388482804 | NA | KCNH2 | 7 | 150947670 | - | G |
| rs786205420 | NA | 287 | ANK2 | umls:C0023976 | CLINVAR | NA | 0.129358507 | NA | ANK2 | 4 | 113293537 | C | T |
| rs786205426 | NA | 6640 | SNTA1 | umls:C0023976 | CLINVAR | NA | 0.12554839 | NA | SNTA1 | 20 | 33408527 | G | A |
| rs79299226 | 16301357 | 6331 | SCN5A | umls:C0023976 | BeFree | Although L1825P generates late sodium current typical of SCN5A-linked long-QT syndrome (LQT3) in vitro, the patient reported had a normal QT interval before administration of the drug. | 0.334978501 | 2005 | SCN5A | 3 | 38550898 | A | G |
| rs794728721 | NA | 6262 | RYR2 | umls:C0023976 | CLINVAR | NA | 0.126905599 | NA | RYR2 | 1 | 237445489 | G | A |
| rs794728783 | NA | 6262 | RYR2 | umls:C0023976 | CLINVAR | NA | 0.126905599 | NA | RYR2 | 1 | 237783984 | C | T |
| rs796052166 | NA | 3784 | KCNQ1 | umls:C0023976 | CLINVAR | NA | 0.416510837 | NA | KCNQ1 | 11 | 2571405 | T | G |
| rs796052195 | NA | 3757 | KCNH2 | umls:C0023976 | CLINVAR | NA | 0.388482804 | NA | KCNH2 | 7 | 150951544 | A | G |
| rs796052196 | NA | 3757 | KCNH2 | umls:C0023976 | CLINVAR | NA | 0.388482804 | NA | KCNH2 | 7 | 150974709 | A | T |
| rs796052197 | NA | 287 | ANK2 | umls:C0023976 | CLINVAR | NA | 0.129358507 | NA | ANK2 | 4 | 113354767 | T | C |
| rs796052198 | NA | 287 | ANK2 | umls:C0023976 | CLINVAR | NA | 0.129358507 | NA | ANK2 | 4 | 113356741 | T | C |
| rs796052199 | NA | 10142 | AKAP9 | umls:C0023976 | CLINVAR | NA | 0.120542884 | NA | AKAP9 | 7 | 92002212 | T | A |
| rs796052200 | NA | 10142 | AKAP9 | umls:C0023976 | CLINVAR | NA | 0.120542884 | NA | AKAP9 | 7 | 92045186 | T | A |
| rs79654911 | NA | 3753 | KCNE1 | umls:C0023976 | CLINVAR | NA | 0.280000439 | NA | KCNE1 | 21 | 34449435 | C | T |
| rs79891110 | NA | 775 | CACNA1C | umls:C0023976 | CLINVAR | NA | 0.121628651 | NA | CACNA1C | 12 | 2504944 | G | A |
| rs9333649 | 10220146 | 3757 | KCNH2 | umls:C0023976 | BeFree | The sensitivity of the method was 100% when 34 different point mutations were analyzed, including two previously unpublished LQTS-associated mutations (F157C in KVLQT1 and G572R in HERG), as well as eight novel normal variants in HERG and MYH7. | 0.388482804 | 1999 | KCNH2 | 7 | 150951679 | C | T,G,A |
| rs9333649 | 10220146 | 4625 | MYH7 | umls:C0023976 | BeFree | The sensitivity of the method was 100% when 34 different point mutations were analyzed, including two previously unpublished LQTS-associated mutations (F157C in KVLQT1 and G572R in HERG), as well as eight novel normal variants in HERG and MYH7. | 0.000271442 | 1999 | KCNH2 | 7 | 150951679 | C | T,G,A |
| rs9333649 | 10735633 | 3757 | KCNH2 | umls:C0023976 | BeFree | Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2. | 0.388482804 | 2000 | KCNH2 | 7 | 150951679 | C | T,G,A |
| rs9333649 | 10220146 | 3784 | KCNQ1 | umls:C0023976 | BeFree | The sensitivity of the method was 100% when 34 different point mutations were analyzed, including two previously unpublished LQTS-associated mutations (F157C in KVLQT1 and G572R in HERG), as well as eight novel normal variants in HERG and MYH7. | 0.416510837 | 1999 | KCNH2 | 7 | 150951679 | C | T,G,A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 329 |
|---|---|
| Disease | long qt syndrome |
| Case | (Waiting for update.) |