brugada syndrome |
Disease ID | 30 |
---|---|
Disease | brugada syndrome |
Definition | An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit. |
Synonym | brgda1 brugada syndrome (disorder) brugada syndrome 1 brugada syndrome [disease/finding] brugada syndrome ventricular arrhythmia brugada syndrome ventricular arrhythmia by ecg finding brugada syndrome ventricular arrhythmia by ekg finding brugadas syndrome right bundle branch block, st segment elevation, and sudden death syndrome sudden unexplained nocturnal death syndrome sunds ventricular arrhythmia associated with brugada syndrome |
Orphanet | |
OMIM | |
DOID | |
UMLS | C1142166 |
MeSH | |
SNOMED-CT | |
Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:13) C0085615 | right bundle branch block | 2 C0006384 | bundle branch block | 2 C0011570 | depression | 1 C0878544 | cardiomyopathy | 1 C0027051 | myocardial infarction | 1 C0003467 | anxiety | 1 C0018799 | heart disease | 1 C0917996 | cerebral aneurysm | 1 C0037052 | sick sinus syndrome | 1 C0043202 | wpw syndrome | 1 C0152021 | congenital heart disease | 1 C0027051 | myocardial infarct | 1 C0037315 | sleep-disordered breathing | 1 |
Curated Gene | Entrez_id | Symbol | Resource(Total Genes:17) CACNA1C | 775 | CLINVAR;ORPHANET;GHR;UniProtKB-KW SCN1B | 6324 | CTD_human;ORPHANET;GHR;UniProtKB-KW CACNB2 | 783 | ORPHANET;GHR;UniProtKB-KW HCN4 | 10021 | ORPHANET;GHR;UniProtKB-KW KCND3 | 3752 | ORPHANET;GHR;UniProtKB-KW KCNE3 | 10008 | CLINVAR;ORPHANET;GHR;UniProtKB-KW TRPM4 | 54795 | ORPHANET;GHR KCNJ8 | 3764 | ORPHANET;GHR SCN3B | 55800 | CLINVAR;ORPHANET;GHR;UniProtKB-KW SCN5A | 6331 | CLINVAR;GWASCAT;GHR;UniProtKB-KW;ORPHANET;UNIPROT;CTD_human SCN10A | 6336 | CTD_human;ORPHANET;GWASCAT GPD1L | 23171 | ORPHANET;GHR;UniProtKB-KW SCN2B | 6327 | UniProtKB-KW;GHR CACNA2D1 | 781 | ORPHANET;GHR HEY2 | 23493 | CTD_human SLMAP | 7871 | ORPHANET;GHR RANGRF | 29098 | GHR |
Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:111) 5318 | PKP2 | DISEASES 3784 | KCNQ1 | DISEASES 6640 | SNTA1 | DISEASES 29098 | RANGRF | DISEASES 6783 | SULT1E1 | DISEASES 3111 | HLA-DOA | DISEASES 50805 | IRX4 | DISEASES 9631 | NUP155 | DISEASES 6909 | TBX2 | DISEASES 3764 | KCNJ8 | DISEASES 3759 | KCNJ2 | DISEASES 3024 | HIST1H1A | DISEASES 821 | CANX | DISEASES 54795 | TRPM4 | DISEASES 10060 | ABCC9 | DISEASES 4331 | MNAT1 | DISEASES 845 | CASQ2 | DISEASES 1829 | DSG2 | DISEASES 10021 | HCN4 | DISEASES 3757 | KCNH2 | DISEASES 10371 | SEMA3A | DISEASES 3746 | KCNC1 | DISEASES 775 | CACNA1C | DISEASES 7168 | TPM1 | DISEASES 80816 | ASXL3 | DISEASES 3779 | KCNMB1 | DISEASES 4851 | NOTCH1 | DISEASES 23082 | PPRC1 | DISEASES 6327 | SCN2B | DISEASES 288 | ANK3 | DISEASES 1824 | DSC2 | DISEASES 23704 | KCNE4 | DISEASES 23037 | PDZD2 | DISEASES 23171 | GPD1L | DISEASES 6328 | SCN3A | DISEASES 3773 | KCNJ16 | DISEASES 1562 | CYP2C18 | DISEASES 51422 | PRKAG2 | DISEASES 9992 | KCNE2 | DISEASES 79190 | IRX6 | DISEASES 7871 | SLMAP | DISEASES 8927 | BSN | DISEASES 55800 | SCN3B | DISEASES 2819 | GPD1 | DISEASES 79188 | TMEM43 | DISEASES 79192 | IRX1 | DISEASES 121391 | KRT74 | DISEASES 11280 | SCN11A | DISEASES 1540 | CYLD | DISEASES 171389 | NLRP6 | DISEASES 10008 | KCNE3 | DISEASES 3728 | JUP | DISEASES 5553 | PRG2 | DISEASES 3752 | KCND3 | DISEASES 783 | CACNB2 | DISEASES 6330 | SCN4B | DISEASES 3739 | KCNA4 | DISEASES 6331 | SCN5A | DISEASES 79191 | IRX3 | DISEASES 6546 | SLC8A1 | DISEASES 3751 | KCND2 | DISEASES 2626 | GATA4 | DISEASES 3753 | KCNE1 | DISEASES 1180 | CLCN1 | DISEASES 3762 | KCNJ5 | DISEASES 859 | CAV3 | DISEASES 3767 | KCNJ11 | DISEASES 1739 | DLG1 | DISEASES 331 | XIAP | DISEASES 10142 | AKAP9 | DISEASES 781 | CACNA2D1 | DISEASES 287 | ANK2 | DISEASES 23607 | CD2AP | DISEASES 6337 | SCNN1A | DISEASES 1825 | DSC3 | DISEASES 4519 | MT-CYB | DISEASES 9722 | NOS1AP | DISEASES 376132 | LRRC10 | DISEASES 7179 | TPTE | DISEASES 6262 | RYR2 | DISEASES 3775 | KCNK1 | DISEASES 3664 | IRF6 | DISEASES 89796 | NAV1 | DISEASES 23493 | HEY2 | DISEASES 5950 | RBP4 | DISEASES 57582 | KCNT1 | DISEASES 1678 | TIMM8A | DISEASES 57158 | JPH2 | DISEASES 4920 | ROR2 | DISEASES 2259 | FGF14 | DISEASES 5293 | PIK3CD | DISEASES 116085 | SLC22A12 | DISEASES 22894 | DIS3 | DISEASES 1804 | DPP6 | DISEASES 8514 | KCNAB2 | DISEASES 1832 | DSP | DISEASES 5901 | RAN | DISEASES 10265 | IRX5 | DISEASES 6332 | SCN7A | DISEASES 6336 | SCN10A | DISEASES 6329 | SCN4A | DISEASES 6324 | SCN1B | DISEASES 2935 | GSPT1 | DISEASES 2257 | FGF12 | DISEASES 23089 | PEG10 | DISEASES 9254 | CACNA2D2 | DISEASES 30819 | KCNIP2 | DISEASES 7419 | VDAC3 | DISEASES 9312 | KCNB2 | DISEASES 400410 | ST20 | DISEASES 102723508 | KANTR | DISEASES |
Locus | Symbol | Locus(Total Locus:14) |
Disease ID | 30 |
---|---|
Disease | brugada syndrome |
Manually Symptom | UMLS | Name(Total Manually Symptoms:14) C2712322 | tachycardia C2700501 | wolff-parkinson-white syndrome C2347963 | right ventricular outflow tract tachycardia C2108112 | ventricular fibrillation C1962971 | myocarditis C1145628 | disorders of the autonomic nervous system C0743841 | febrile illness C0684249 | lung cancer C0344432 | polymorphic ventricular tachycardia C0344431 | monomorphic ventricular tachycardia C0340850 | neurally mediated syncope C0235480 | paroxysmal atrial fibrillation C0232197 | fibrillation C0039070 | syncope |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:7) |
Manually Genotype(Total Text Mining Genotypes:0) |
---|
(Waiting for update.) |
All Snps(Total Genotypes:288) | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs10428132 | 24667784 | 6331 | SCN5A | umls:C1142166 | BeFree | We investigated whether three single-nucleotide polymorphisms (SNPs) (rs11708996; G>C located intronic to SCN5A, rs10428132; T>G located in SCN10A, and rs9388451; T>C located downstream to HEY2) at loci associated with BrS in a recent genome-wide association study (GWAS) also were associated with AF. | 0.837036084 | 2013 | SCN10A | 3 | 38736063 | T | G |
rs10428132 | 23872634 | 6336 | SCN10A | umls:C1142166 | GWASCAT | Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. | 0.361357209 | 2013 | SCN10A | 3 | 38736063 | T | G |
rs10428132 | 24667784 | 23493 | HEY2 | umls:C1142166 | BeFree | We investigated whether three single-nucleotide polymorphisms (SNPs) (rs11708996; G>C located intronic to SCN5A, rs10428132; T>G located in SCN10A, and rs9388451; T>C located downstream to HEY2) at loci associated with BrS in a recent genome-wide association study (GWAS) also were associated with AF. | 0.120542884 | 2013 | SCN10A | 3 | 38736063 | T | G |
rs10428132 | 24667784 | 6336 | SCN10A | umls:C1142166 | BeFree | We investigated whether three single-nucleotide polymorphisms (SNPs) (rs11708996; G>C located intronic to SCN5A, rs10428132; T>G located in SCN10A, and rs9388451; T>C located downstream to HEY2) at loci associated with BrS in a recent genome-wide association study (GWAS) also were associated with AF. | 0.361357209 | 2013 | SCN10A | 3 | 38736063 | T | G |
rs11708996 | 23872634 | 6331 | SCN5A | umls:C1142166 | GWASCAT | Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. | 0.837036084 | 2013 | SCN5A | 3 | 38592432 | G | C |
rs11708996 | 24667784 | 6331 | SCN5A | umls:C1142166 | BeFree | We investigated whether three single-nucleotide polymorphisms (SNPs) (rs11708996; G>C located intronic to SCN5A, rs10428132; T>G located in SCN10A, and rs9388451; T>C located downstream to HEY2) at loci associated with BrS in a recent genome-wide association study (GWAS) also were associated with AF. | 0.837036084 | 2013 | SCN5A | 3 | 38592432 | G | C |
rs11708996 | 24667784 | 23493 | HEY2 | umls:C1142166 | BeFree | We investigated whether three single-nucleotide polymorphisms (SNPs) (rs11708996; G>C located intronic to SCN5A, rs10428132; T>G located in SCN10A, and rs9388451; T>C located downstream to HEY2) at loci associated with BrS in a recent genome-wide association study (GWAS) also were associated with AF. | 0.120542884 | 2013 | SCN5A | 3 | 38592432 | G | C |
rs11708996 | 24667784 | 6336 | SCN10A | umls:C1142166 | BeFree | We investigated whether three single-nucleotide polymorphisms (SNPs) (rs11708996; G>C located intronic to SCN5A, rs10428132; T>G located in SCN10A, and rs9388451; T>C located downstream to HEY2) at loci associated with BrS in a recent genome-wide association study (GWAS) also were associated with AF. | 0.361357209 | 2013 | SCN5A | 3 | 38592432 | G | C |
rs121908441 | NA | 10008 | KCNE3 | umls:C1142166 | CLINVAR | NA | 0.24 | NA | KCNE3 | 11 | 74457268 | C | T |
rs121912775 | NA | 775 | CACNA1C | umls:C1142166 | CLINVAR | NA | 0.244895885 | NA | CACNA1C | 12 | 2550020 | G | A |
rs121912776 | NA | 775 | CACNA1C | umls:C1142166 | CLINVAR | NA | 0.244895885 | NA | CACNA1C | 12 | 2115290 | C | T |
rs121912776 | 24775099 | 801 | CALM1 | umls:C1142166 | BeFree | Effect of the Brugada syndrome mutation A39V on calmodulin regulation of Cav1.2 channels. | 0.000542884 | 2014 | CACNA1C | 12 | 2115290 | C | T |
rs121912776 | 22385640 | 775 | CACNA1C | umls:C1142166 | BeFree | The Brugada syndrome mutation A39V does not affect surface expression of neuronal rat Cav1.2 channels. | 0.244895885 | 2012 | CACNA1C | 12 | 2115290 | C | T |
rs121912776 | 24775099 | 805 | CALM2 | umls:C1142166 | BeFree | Effect of the Brugada syndrome mutation A39V on calmodulin regulation of Cav1.2 channels. | 0.000542884 | 2014 | CACNA1C | 12 | 2115290 | C | T |
rs121912776 | 24775099 | 775 | CACNA1C | umls:C1142166 | BeFree | Effect of the Brugada syndrome mutation A39V on calmodulin regulation of Cav1.2 channels. | 0.244895885 | 2014 | CACNA1C | 12 | 2115290 | C | T |
rs121912776 | 24775099 | 808 | CALM3 | umls:C1142166 | BeFree | Effect of the Brugada syndrome mutation A39V on calmodulin regulation of Cav1.2 channels. | 0.000542884 | 2014 | CACNA1C | 12 | 2115290 | C | T |
rs121918282 | NA | 55800 | SCN3B | umls:C1142166 | CLINVAR | NA | 0.240814326 | NA | SCN3B;LOC105369543 | 11 | 123653773 | A | G |
rs12720452 | 11997281 | 6331 | SCN5A | umls:C1142166 | UNIPROT | Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. | 0.837036084 | 2002 | SCN5A | 3 | 38603758 | C | T |
rs12720452 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38603758 | C | T |
rs137854603 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38550602 | C | T |
rs137854609 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38581170 | C | T,A |
rs137854611 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38597787 | G | T,A |
rs137854612 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38560170 | C | T |
rs137854614 | 11410597 | 2042 | EPHA3 | umls:C1142166 | BeFree | We report the analysis of two novel mutations on the same codon, Y1795C (LQT-3) and Y1795H (BrS), expressed in HEK 293 cells and characterized using whole-cell patch clamp procedures. | 0.000271442 | 2001 | SCN5A | 3 | 38550988 | T | C |
rs137854614 | 16929919 | 6331 | SCN5A | umls:C1142166 | 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). | 0.837036084 | 2006 | SCN5A | 3 | 38550988 | T | C |
rs137854615 | 16929919 | 6331 | SCN5A | umls:C1142166 | 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). | 0.837036084 | 2006 | SCN5A | 3 | 38550989 | A | G |
rs137854615 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38550989 | A | G |
rs137854615 | 11410597 | 2042 | EPHA3 | umls:C1142166 | BeFree | We report the analysis of two novel mutations on the same codon, Y1795C (LQT-3) and Y1795H (BrS), expressed in HEK 293 cells and characterized using whole-cell patch clamp procedures. | 0.000271442 | 2001 | SCN5A | 3 | 38550989 | A | G |
rs137854616 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38566465 | C | T |
rs137854617 | 15579534 | 6331 | SCN5A | umls:C1142166 | BeFree | Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes. | 0.837036084 | 2004 | SCN5A | 3 | 38581002 | C | T |
rs137854618 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38566426 | C | T,A |
rs146848219 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38604004 | C | T |
rs185492581 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38630327 | T | C |
rs193922726 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38551188 | G | C,A |
rs199473042 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38633304 | C | T |
rs199473050 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38633098 | A | C |
rs199473051 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38633058 | C | T |
rs199473052 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38630425 | A | G |
rs199473053 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38630422 | A | C |
rs199473054 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38630420 | C | T,G |
rs199473054 | 24529773 | 6331 | SCN5A | umls:C1142166 | BeFree | Three SCN5A mutations (V95I, R121Q, and R367H) have been previously implicated in BrS. | 0.837036084 | 2013 | SCN5A | 3 | 38630420 | C | T,G |
rs199473055 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38630393 | G | C,A |
rs199473056 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38630376 | G | T,A |
rs199473058 | 24529773 | 6331 | SCN5A | umls:C1142166 | BeFree | Three SCN5A mutations (V95I, R121Q, and R367H) have been previously implicated in BrS. | 0.837036084 | 2013 | SCN5A | 3 | 38630341 | C | T |
rs199473058 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38630341 | C | T |
rs199473061 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38622446 | C | T |
rs199473062 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38622401 | C | T,G |
rs199473063 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38620929 | C | G |
rs199473065 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38620921 | G | C |
rs199473066 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38620910 | A | G |
rs199473067 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38620900 | G | A |
rs199473070 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38613811 | A | T,G |
rs199473074 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38613758 | T | C |
rs199473076 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38609950 | C | T |
rs199473079 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38609860 | G | T |
rs199473081 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38609841 | A | T |
rs199473082 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38609824 | G | A |
rs199473083 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38609823 | C | T |
rs199473085 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38609794 | C | T |
rs199473086 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38609788 | C | T |
rs199473088 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38609770 | C | T |
rs199473089 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38608198 | C | G |
rs199473090 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38608194 | C | T |
rs199473091 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38608190 | G | T |
rs199473092 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38608175 | A | C |
rs199473093 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38606802 | G | A |
rs199473095 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38606757 | C | T,A |
rs199473096 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38606751 | G | A |
rs199473096 | 25261036 | 6331 | SCN5A | umls:C1142166 | BeFree | Electrophysiological and trafficking defects of the SCN5A T353I mutation in Brugada syndrome are rescued by alpha-allocryptopine. | 0.837036084 | 2014 | SCN5A | 3 | 38606751 | G | A |
rs199473096 | 17198989 | 6331 | SCN5A | umls:C1142166 | BeFree | We have identified a novel threonine-to-isoleucine missense mutation at position 353 (T353I) adjacent to the pore-lining region of domain I of the cardiac sodium channel (SCN5A) in a family with Brugada syndrome. | 0.837036084 | 2007 | SCN5A | 3 | 38606751 | G | A |
rs199473098 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38606703 | A | T |
rs199473101 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38606682 | C | T |
rs199473102 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38606133 | C | T |
rs199473103 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38606102 | A | G |
rs199473104 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38606103 | C | G |
rs199473117 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38604745 | T | C |
rs199473122 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38603973 | A | T |
rs199473123 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38603939 | C | T |
rs199473124 | 11123251 | 6331 | SCN5A | umls:C1142166 | BeFree | A missense mutation of SCN5A that substitutes glutamine for leucine at codon 567 (L567Q, in the cytoplasmic linker between domains I and II) is identified with sudden infant death and Brugada syndrome in one family. | 0.837036084 | 2001 | SCN5A | 3 | 38603902 | A | T |
rs199473124 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38603902 | A | T |
rs199473129 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38603846 | C | T |
rs199473133 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38603747 | G | A |
rs199473134 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38599046 | G | A |
rs199473137 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38599023 | G | C,A |
rs199473139 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38598960 | G | A |
rs199473143 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38597949 | T | G |
rs199473144 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38597944 | A | G,C |
rs199473149 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38597841 | G | A |
rs199473151 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38597788 | C | T |
rs199473153 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38597737 | C | T |
rs199473154 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38587563 | C | T |
rs199473156 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38587545 | A | G,C |
rs199473158 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38587519 | G | A |
rs199473159 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38587471 | C | T |
rs199473163 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38585974 | G | A |
rs199473164 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38585962 | A | G |
rs199473167 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38585879 | C | G |
rs199473168 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38585846 | G | A |
rs199473169 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38585821 | T | G |
rs199473170 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38585804 | A | T |
rs199473171 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38585801 | G | A |
rs199473172 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38585800 | C | T,A |
rs199473173 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38585792 | A | T |
rs199473174 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38585777 | C | T |
rs199473175 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38585749 | G | A |
rs199473176 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38585728 | A | C |
rs199473178 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38585695 | A | G |
rs199473179 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38581355 | A | G |
rs199473180 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38581266 | G | C,A |
rs199473181 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38581265 | C | T,A |
rs199473188 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38579488 | G | T,A |
rs199473194 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38579386 | G | A |
rs199473199 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38576753 | C | G |
rs199473205 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38566567 | A | G |
rs199473206 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38566554 | C | T |
rs199473207 | 18503232 | 6331 | SCN5A | umls:C1142166 | BeFree | Absence of a trafficking defect in R1232W/T1620M, a double SCN5A mutant responsible for Brugada syndrome. | 0.837036084 | 2008 | SCN5A | 3 | 38566555 | G | A |
rs199473207 | 11786529 | 6331 | SCN5A | umls:C1142166 | BeFree | Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome. | 0.837036084 | 2002 | SCN5A | 3 | 38566555 | G | A |
rs199473207 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38566555 | G | A |
rs199473208 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38566541 | C | A |
rs199473209 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38566542 | T | C |
rs199473210 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38566533 | A | G |
rs199473211 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38566531 | C | G |
rs199473213 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38566503 | A | T |
rs199473214 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38566491 | T | C |
rs199473217 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38562515 | G | C |
rs199473219 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38562446 | A | G |
rs199473220 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38562422 | C | A |
rs199473221 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38560424 | A | C |
rs199473225 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38560397 | G | C,A |
rs199473228 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38560362 | A | G |
rs199473229 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38560361 | A | G |
rs199473230 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38560356 | G | T |
rs199473231 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38560355 | A | G |
rs199473232 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38560340 | A | C |
rs199473233 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38560335 | C | T |
rs199473234 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38560320 | C | A |
rs199473235 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38560315 | C | T,A |
rs199473236 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38560313 | A | C |
rs199473237 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38560304 | C | T |
rs199473238 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38560252 | G | C |
rs199473239 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38560179 | C | T,G |
rs199473240 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38560176 | C | T |
rs199473241 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38560158 | G | A |
rs199473242 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38557275 | T | C |
rs199473243 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38557271 | C | A |
rs199473244 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38557251 | C | A |
rs199473245 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38557236 | T | C |
rs199473245 | 11420310 | 6331 | SCN5A | umls:C1142166 | BeFree | Novel mechanism for Brugada syndrome: defective surface localization of an SCN5A mutant (R1432G). | 0.837036084 | 2001 | SCN5A | 3 | 38557236 | T | C |
rs199473247 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38557232 | C | T,A |
rs199473248 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38556565 | G | A |
rs199473249 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38556557 | C | G |
rs199473250 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38556536 | T | G |
rs199473251 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38556535 | A | G |
rs199473252 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38556526 | A | T |
rs199473254 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38556476 | C | A |
rs199473261 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38555718 | A | T |
rs199473266 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38555697 | G | C |
rs199473267 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38555694 | C | T |
rs199473269 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38554519 | C | T |
rs199473270 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38554512 | T | C |
rs199473271 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38554450 | C | T |
rs199473272 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38554435 | T | G |
rs199473273 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38554387 | C | G |
rs199473274 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38554380 | A | C |
rs199473275 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38554347 | A | G |
rs199473280 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38554282 | C | T |
rs199473281 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38551534 | T | A |
rs199473282 | 10664447 | 6331 | SCN5A | umls:C1142166 | BeFree | SCN5A mutation (T1620M) causing Brugada syndrome exhibits different phenotypes when expressed in Xenopus oocytes and mammalian cells. | 0.837036084 | 2000 | SCN5A | 3 | 38551513 | G | T,A |
rs199473282 | 11029409 | 6331 | SCN5A | umls:C1142166 | BeFree | The biophysical properties of the SCN5A mutation T1620M associated with Brugada syndrome were examined for defects in intermediate inactivation (I:(M)), a gating process in Na(+) channels with kinetic features intermediate between fast and slow inactivation. | 0.837036084 | 2000 | SCN5A | 3 | 38551513 | G | T,A |
rs199473282 | 11786529 | 6331 | SCN5A | umls:C1142166 | BeFree | Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome. | 0.837036084 | 2002 | SCN5A | 3 | 38551513 | G | T,A |
rs199473282 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38551513 | G | T,A |
rs199473282 | 18503232 | 6331 | SCN5A | umls:C1142166 | BeFree | Absence of a trafficking defect in R1232W/T1620M, a double SCN5A mutant responsible for Brugada syndrome. | 0.837036084 | 2008 | SCN5A | 3 | 38551513 | G | T,A |
rs199473284 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38551487 | G | C,A |
rs199473289 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38551426 | G | A |
rs199473292 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38551391 | C | T,G |
rs199473294 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38551334 | C | T |
rs199473295 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38551280 | C | T |
rs199473296 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38551254 | C | G |
rs199473297 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38551246 | G | C,A |
rs199473298 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38551238 | C | T |
rs199473299 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38551208 | T | C |
rs199473299 | 23085483 | 6331 | SCN5A | umls:C1142166 | BeFree | p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient. | 0.837036084 | 2013 | SCN5A | 3 | 38551208 | T | C |
rs199473302 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38551190 | A | G |
rs199473304 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38551154 | C | T |
rs199473305 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38551145 | C | T |
rs199473309 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38551082 | C | A |
rs199473313 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38551051 | T | C |
rs199473315 | 24599044 | 6331 | SCN5A | umls:C1142166 | BeFree | Flecainide provocation reveals concealed brugada syndrome in a long QT syndrome family with a novel L1786Q mutation in SCN5A. | 0.837036084 | 2015 | SCN5A | 3 | 38551015 | A | T |
rs199473318 | 23085483 | 6331 | SCN5A | umls:C1142166 | BeFree | p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient. | 0.837036084 | 2013 | SCN5A | 3 | 38550967 | T | C |
rs199473320 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38550878 | G | C |
rs199473322 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38550823 | C | G |
rs199473322 | 18252757 | 6331 | SCN5A | umls:C1142166 | BeFree | Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome. | 0.837036084 | 2008 | SCN5A | 3 | 38550823 | C | G |
rs199473323 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38550756 | C | G |
rs199473329 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38550560 | C | T,A |
rs199473332 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38550481 | G | A |
rs199473340 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38585925 | G | T |
rs199473391 | NA | 775 | CACNA1C | umls:C1142166 | CLINVAR | NA | 0.244895885 | NA | CACNA1C | 12 | 2607117 | G | A |
rs199473392 | NA | 775 | CACNA1C | umls:C1142166 | CLINVAR | NA | 0.244895885 | NA | CACNA1C;CACNA1C-AS1 | 12 | 2691170 | G | A,T |
rs199473550 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38633305 | C | T |
rs199473552 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38633205 | C | T |
rs199473554 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38630392 | C | T |
rs199473556 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38630342 | G | A |
rs199473557 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38622475 | A | G |
rs199473558 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38620894 | G | C,A |
rs199473559 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38620843 | G | T,A |
rs199473560 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38613779 | C | G |
rs199473561 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38613769 | G | A |
rs199473562 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38609836 | G | C |
rs199473564 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38608205 | A | G |
rs199473565 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38606743 | C | T |
rs199473566 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38606689 | A | C |
rs199473567 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38606132 | C | T |
rs199473568 | 17445919 | 6331 | SCN5A | umls:C1142166 | BeFree | A paradoxical effect of lidocaine for the N406S mutation of SCN5A associated with Brugada syndrome. | 0.837036084 | 2007 | SCN5A | 3 | 38606072 | T | C |
rs199473568 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38606072 | T | C |
rs199473570 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38605974 | C | T |
rs199473573 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38604007 | A | C |
rs199473574 | 16155735 | 6331 | SCN5A | umls:C1142166 | BeFree | We also identified the SCN5A A551T mutation in 1 of the 28 patients with Brugada syndrome. | 0.837036084 | 2005 | SCN5A | 3 | 38603951 | C | T |
rs199473574 | 19706159 | 6331 | SCN5A | umls:C1142166 | BeFree | Characterization of a novel Nav1.5 channel mutation, A551T, associated with Brugada syndrome. | 0.837036084 | 2009 | SCN5A | 3 | 38603951 | C | T |
rs199473574 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38603951 | C | T |
rs199473577 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38603744 | G | A |
rs199473582 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38597755 | C | T |
rs199473584 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38586037 | C | T |
rs199473586 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38585927 | A | G |
rs199473587 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38585845 | C | T |
rs199473588 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38585735 | A | G |
rs199473589 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38585698 | T | C |
rs199473592 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38581091 | C | T,G |
rs199473593 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38580995 | T | C |
rs199473597 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38575307 | C | T |
rs199473599 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38566522 | C | T |
rs199473601 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38566436 | C | G |
rs199473602 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38562537 | C | A |
rs199473605 | 19648062 | 6331 | SCN5A | umls:C1142166 | BeFree | A novel SCN5A mutation V1340I in Brugada syndrome augmenting arrhythmias during febrile illness. | 0.837036084 | 2009 | SCN5A | 3 | 38560374 | C | T |
rs199473605 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38560374 | C | T |
rs199473606 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38560357 | C | T,A |
rs199473607 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38560343 | A | G |
rs199473608 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38560247 | C | A |
rs199473609 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38560175 | C | T |
rs199473610 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38560166 | T | C |
rs199473611 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38557272 | C | G |
rs199473612 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38557247 | G | A |
rs199473613 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38556532 | T | C |
rs199473614 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38556491 | T | A |
rs199473617 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38554530 | A | T,G |
rs199473620 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38554372 | C | T |
rs199473621 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38554344 | C | T |
rs199473623 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38551486 | C | T |
rs199473623 | 24167619 | 6331 | SCN5A | umls:C1142166 | BeFree | Electrophysiological characteristics of a SCN5A voltage sensors mutation R1629Q associated with Brugada syndrome. | 0.837036084 | 2013 | SCN5A | 3 | 38551486 | C | T |
rs199473624 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38551447 | C | T |
rs199473625 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38551394 | T | C |
rs199473626 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38551357 | G | T |
rs199473628 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38551231 | T | C |
rs199473629 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38551144 | C | T |
rs199473634 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38551036 | G | A |
rs199473636 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38550791 | C | T |
rs199473637 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38550569 | C | T |
rs199473639 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38550469 | A | T,C |
rs200034939 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38557248 | C | A |
rs201641342 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38603950 | G | A |
rs28936971 | 11748104 | 6331 | SCN5A | umls:C1142166 | UNIPROT | Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. | 0.837036084 | 2001 | NA | NA | NA | NA | NA |
rs28937318 | 24529773 | 6331 | SCN5A | umls:C1142166 | BeFree | Three SCN5A mutations (V95I, R121Q, and R367H) have been previously implicated in BrS. | 0.837036084 | 2013 | SCN5A | 3 | 38606709 | C | T,A |
rs28937318 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38606709 | C | T,A |
rs28937318 | 12106943 | 6331 | SCN5A | umls:C1142166 | UNIPROT | Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. | 0.837036084 | 2002 | SCN5A | 3 | 38606709 | C | T,A |
rs28937318 | 11823453 | 6331 | SCN5A | umls:C1142166 | UNIPROT | We screened patients with SUNDS for mutations in SCN5A, the gene known to cause Brugada syndrome, as well as genes encoding ion channels associated with the long-QT syndrome. | 0.837036084 | 2002 | SCN5A | 3 | 38606709 | C | T,A |
rs370438420 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38613836 | T | C |
rs3918389 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38603948 | C | T,G,A |
rs3918389 | 12358675 | 6331 | SCN5A | umls:C1142166 | UNIPROT | SCN5A is expressed in human jejunal circular smooth muscle cells. | 0.837036084 | 2002 | SCN5A | 3 | 38603948 | C | T,G,A |
rs41261344 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38575385 | C | T |
rs41261344 | 15851440 | 6331 | SCN5A | umls:C1142166 | BeFree | DNA analysis revealed a missense mutation (R1193Q) in the SCN5A gene, previously linked with familial sudden unexpected nocturnal death syndrome, also known as Brugada syndrome. | 0.837036084 | 2005 | SCN5A | 3 | 38575385 | C | T |
rs41261344 | 11823453 | 6331 | SCN5A | umls:C1142166 | UNIPROT | We screened patients with SUNDS for mutations in SCN5A, the gene known to cause Brugada syndrome, as well as genes encoding ion channels associated with the long-QT syndrome. | 0.837036084 | 2002 | SCN5A | 3 | 38575385 | C | T |
rs41311087 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38633255 | C | T |
rs41311117 | 18378609 | 6331 | SCN5A | umls:C1142166 | UNIPROT | Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. | 0.837036084 | 2008 | SCN5A | 3 | 38550362 | A | C,G,T |
rs45471994 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38613752 | C | T |
rs45471994 | 18599870 | 6331 | SCN5A | umls:C1142166 | BeFree | We characterized a novel double mutation of SCN5A (V232I in DI-S4+L1308F in DIII-S4) identified in a rare case of lidocaine (1 mg/kg)-induced Brugada syndrome. | 0.837036084 | 2008 | SCN5A | 3 | 38613752 | C | T |
rs45514691 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38554345 | G | A |
rs45620037 | 14523039 | 6331 | SCN5A | umls:C1142166 | UNIPROT | Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). | 0.837036084 | 2003 | SCN5A | 3 | 38613787 | G | A |
rs45620037 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38613787 | G | A |
rs45627438 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38604025 | C | T |
rs72549410 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38606058 | C | T |
rs72552291 | 20724705 | 23171 | GPD1L | umls:C1142166 | BeFree | Rotenone, mitoTEMPO, and 4'-chlorodiazepam also blocked the mutant A280V GPD1-L (glycerol-3-phosphate dehydrogenase 1-like) effect on reducing I(Na), indicating a role for mitochondria in the Brugada syndrome caused by this mutation. | 0.126448592 | 2010 | GPD1L | 3 | 32159096 | C | T |
rs72554071 | 20558321 | 3764 | KCNJ8 | umls:C1142166 | BeFree | These findings further implicate KCNJ8 as a novel J-wave syndrome susceptibility gene and a marked gain of function in the cardiac K(ATP) Kir6.1 channel secondary to KCNJ8-S422L as a novel pathogenic mechanism for the phenotypic expression of both BrS and ERS. | 0.122909916 | 2010 | KCNJ8;LOC105369689 | 12 | 21765733 | G | A |
rs72554071 | 22056721 | 3764 | KCNJ8 | umls:C1142166 | BeFree | Our results support the hypothesis that KCNJ8 is a susceptibility gene for BrS and ERS and point to S422L as a possible hotspot mutation. | 0.122909916 | 2012 | KCNJ8;LOC105369689 | 12 | 21765733 | G | A |
rs730880207 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38562461 | C | T |
rs794728852 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38609848 | C | T |
rs794728914 | NA | 6331 | SCN5A | umls:C1142166 | CLINVAR | NA | 0.837036084 | NA | SCN5A | 3 | 38585895 | AA | - |
rs9388451 | 24667784 | 6336 | SCN10A | umls:C1142166 | BeFree | We investigated whether three single-nucleotide polymorphisms (SNPs) (rs11708996; G>C located intronic to SCN5A, rs10428132; T>G located in SCN10A, and rs9388451; T>C located downstream to HEY2) at loci associated with BrS in a recent genome-wide association study (GWAS) also were associated with AF. | 0.361357209 | 2013 | NA | 6 | 125769231 | T | C |
rs9388451 | 24667784 | 6331 | SCN5A | umls:C1142166 | BeFree | We investigated whether three single-nucleotide polymorphisms (SNPs) (rs11708996; G>C located intronic to SCN5A, rs10428132; T>G located in SCN10A, and rs9388451; T>C located downstream to HEY2) at loci associated with BrS in a recent genome-wide association study (GWAS) also were associated with AF. | 0.837036084 | 2013 | NA | 6 | 125769231 | T | C |
rs9388451 | 24667784 | 23493 | HEY2 | umls:C1142166 | BeFree | We investigated whether three single-nucleotide polymorphisms (SNPs) (rs11708996; G>C located intronic to SCN5A, rs10428132; T>G located in SCN10A, and rs9388451; T>C located downstream to HEY2) at loci associated with BrS in a recent genome-wide association study (GWAS) also were associated with AF. | 0.120542884 | 2013 | NA | 6 | 125769231 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
---|---|
(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:19) | |||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
3 | 38633923 | rs11708996 | G | C | rs11708996 | 23872634 | 1.00E-14 | NA | 1.73 | [1.51-1.99] | 312 European ancestry cases; 1,115 European ancestry controls | European(1427) | ALL(1427) | EUR(1427) | ALL(1427) | Brugada syndrome | HPOID:0005150 | Abnormal atrioventricular conduction | DOID:0050451 | Brugada syndrome | NA | NA | NA | NA | Cardiovascular disease | rs11708996-C | Research Support, Non-U.S. Gov't | G | SCN5A |
3 | 38648062 | rs6599222 | C | T | rs6599222 | 23872634 | 3.19E-04 | NA | 1.51 | [1.21-1.89] | 312 European ancestry cases; 1,115 European ancestry controls | European(1427) | ALL(1427) | EUR(1427) | ALL(1427) | Brugada syndrome | HPOID:0005150 | Abnormal atrioventricular conduction | DOID:0050451 | Brugada syndrome | NA | NA | NA | NA | Cardiovascular disease | rs6599222-T | Research Support, Non-U.S. Gov't | T | SCN5A |
3 | 38719935 | rs9851724 | C | T | rs9851724 | 23872634 | 1.56E-04 | NA | 1.47 | [1.21-1.80] | 312 European ancestry cases; 1,115 European ancestry controls | European(1427) | ALL(1427) | EUR(1427) | ALL(1427) | Brugada syndrome | HPOID:0005150 | Abnormal atrioventricular conduction | DOID:0050451 | Brugada syndrome | NA | NA | NA | NA | Cardiovascular disease | rs9851724-T | Research Support, Non-U.S. Gov't | T | NA |
3 | 38738717 | rs6599240 | G | A | rs6599240 | 23872634 | 1.20E-13 | NA | 2.07 | [1.71-2.51] | 312 European ancestry cases; 1,115 European ancestry controls | European(1427) | ALL(1427) | EUR(1427) | ALL(1427) | Brugada syndrome | HPOID:0005150 | Abnormal atrioventricular conduction | DOID:0050451 | Brugada syndrome | NA | NA | NA | NA | Cardiovascular disease | rs6599240-A | Research Support, Non-U.S. Gov't | G | SCN10A |
3 | 38750375 | rs11129801 | A | G | rs11129801 | 23872634 | 2.77E-08 | NA | 2 | [1.56-2.55] | 312 European ancestry cases; 1,115 European ancestry controls | European(1427) | ALL(1427) | EUR(1427) | ALL(1427) | Brugada syndrome | HPOID:0005150 | Abnormal atrioventricular conduction | DOID:0050451 | Brugada syndrome | NA | NA | NA | NA | Cardiovascular disease | rs11129801-G | Research Support, Non-U.S. Gov't | A | SCN10A |
3 | 38766675 | rs6795970 | A | G | rs6795970 | 23872634 | 1.11E-27 | NA | 2.7 | [2.26-3.23] | 312 European ancestry cases; 1,115 European ancestry controls | European(1427) | ALL(1427) | EUR(1427) | ALL(1427) | Brugada syndrome | HPOID:0005150 | Abnormal atrioventricular conduction | DOID:0050451 | Brugada syndrome | NA | NA | NA | NA | Cardiovascular disease | rs6795970-G | Research Support, Non-U.S. Gov't | G | SCN10A |
3 | 38771994 | rs9874633 | A | G | rs9874633 | 23872634 | 1.66E-13 | NA | 2.7 | [2.07-3.52] | 312 European ancestry cases; 1,115 European ancestry controls | European(1427) | ALL(1427) | EUR(1427) | ALL(1427) | Brugada syndrome | HPOID:0005150 | Abnormal atrioventricular conduction | DOID:0050451 | Brugada syndrome | NA | NA | NA | NA | Cardiovascular disease | rs9874633-A | Research Support, Non-U.S. Gov't | G | SCN10A |
3 | 38777554 | rs10428132 | T | G | rs10428132 | 23872634 | 1.00E-68 | NA | 2.55 | [2.30-2.84] | 312 European ancestry cases; 1,115 European ancestry controls | European(1427) | ALL(1427) | EUR(1427) | ALL(1427) | Brugada syndrome | HPOID:0005150 | Abnormal atrioventricular conduction | DOID:0050451 | Brugada syndrome | NA | NA | NA | NA | Cardiovascular disease | rs10428132-T | Research Support, Non-U.S. Gov't | G | SCN10A |
3 | 38778191 | rs7428167 | T | C | rs7428167 | 23872634 | 1.22E-22 | NA | 2.86 | [2.32-3.53] | 312 European ancestry cases; 1,115 European ancestry controls | European(1427) | ALL(1427) | EUR(1427) | ALL(1427) | Brugada syndrome | HPOID:0005150 | Abnormal atrioventricular conduction | DOID:0050451 | Brugada syndrome | NA | NA | NA | NA | Cardiovascular disease | rs7428167-T | Research Support, Non-U.S. Gov't | C | SCN10A |
3 | 38780059 | rs10428168 | T | C | rs10428168 | 23872634 | 2.36E-15 | NA | 2.62 | [2.06-3.32] | 312 European ancestry cases; 1,115 European ancestry controls | European(1427) | ALL(1427) | EUR(1427) | ALL(1427) | Brugada syndrome | HPOID:0005150 | Abnormal atrioventricular conduction | DOID:0050451 | Brugada syndrome | NA | NA | NA | NA | Cardiovascular disease | rs10428168-T | Research Support, Non-U.S. Gov't | C | SCN10A |
3 | 38787797 | rs12638572 | A | G | rs12638572 | 23872634 | 2.48E-10 | NA | 2.12 | [1.68-2.67] | 312 European ancestry cases; 1,115 European ancestry controls | European(1427) | ALL(1427) | EUR(1427) | ALL(1427) | Brugada syndrome | HPOID:0005150 | Abnormal atrioventricular conduction | DOID:0050451 | Brugada syndrome | NA | NA | NA | NA | Cardiovascular disease | rs12638572-A | Research Support, Non-U.S. Gov't | G | SCN10A |
3 | 38798836 | rs6798015 | C | T | rs6798015 | 23872634 | 3.53E-26 | NA | 2.68 | [2.23-3.21] | 312 European ancestry cases; 1,115 European ancestry controls | European(1427) | ALL(1427) | EUR(1427) | ALL(1427) | Brugada syndrome | HPOID:0005150 | Abnormal atrioventricular conduction | DOID:0050451 | Brugada syndrome | NA | NA | NA | NA | Cardiovascular disease | rs6798015-T | Research Support, Non-U.S. Gov't | T | SCN10A |
3 | 38802251 | rs7641844 | A | G | rs7641844 | 23872634 | 3.80E-08 | NA | 2.02 | [1.57-2.59] | 312 European ancestry cases; 1,115 European ancestry controls | European(1427) | ALL(1427) | EUR(1427) | ALL(1427) | Brugada syndrome | HPOID:0005150 | Abnormal atrioventricular conduction | DOID:0050451 | Brugada syndrome | NA | NA | NA | NA | Cardiovascular disease | rs7641844-A | Research Support, Non-U.S. Gov't | A | SCN10A |
3 | 38803639 | rs7430439 | G | A | rs7430439 | 23872634 | 1.10E-08 | NA | 1.75 | [1.45-2.13] | 312 European ancestry cases; 1,115 European ancestry controls | European(1427) | ALL(1427) | EUR(1427) | ALL(1427) | Brugada syndrome | HPOID:0005150 | Abnormal atrioventricular conduction | DOID:0050451 | Brugada syndrome | NA | NA | NA | NA | Cardiovascular disease | rs7430439-G | Research Support, Non-U.S. Gov't | A | SCN10A |
3 | 38804588 | rs6599257 | C | T | rs6599257 | 23872634 | 1.01E-14 | NA | 2.17 | [1.79-2.65] | 312 European ancestry cases; 1,115 European ancestry controls | European(1427) | ALL(1427) | EUR(1427) | ALL(1427) | Brugada syndrome | HPOID:0005150 | Abnormal atrioventricular conduction | DOID:0050451 | Brugada syndrome | NA | NA | NA | NA | Cardiovascular disease | rs6599257-C | Research Support, Non-U.S. Gov't | T | SCN10A |
6 | 126041164 | rs1268070 | C | T | rs1268070 | 23872634 | 5.13E-09 | NA | 1.8 | [1.48-2.20] | 312 European ancestry cases; 1,115 European ancestry controls | European(1427) | ALL(1427) | EUR(1427) | ALL(1427) | Brugada syndrome | HPOID:0005150 | Abnormal atrioventricular conduction | DOID:0050451 | Brugada syndrome | NA | NA | NA | NA | Cardiovascular disease | rs1268070-C | Research Support, Non-U.S. Gov't | T | NA |
6 | 126090377 | rs9388451 | T | C | rs9388451 | 23872634 | 5.00E-17 | NA | 1.58 | [1.42-1.75] | 312 European ancestry cases; 1,115 European ancestry controls | European(1427) | ALL(1427) | EUR(1427) | ALL(1427) | Brugada syndrome | HPOID:0005150 | Abnormal atrioventricular conduction | DOID:0050451 | Brugada syndrome | NA | NA | NA | NA | Cardiovascular disease | rs9388451-C | Research Support, Non-U.S. Gov't | T | NA |
12 | 114793240 | rs883079 | C | T | rs883079 | 23872634 | 3.97E-04 | NA | 1.43 | [1.17-1.74] | 312 European ancestry cases; 1,115 European ancestry controls | European(1427) | ALL(1427) | EUR(1427) | ALL(1427) | Brugada syndrome | HPOID:0005150 | Abnormal atrioventricular conduction | DOID:0050451 | Brugada syndrome | NA | NA | NA | NA | Cardiovascular disease | rs883079-T | Research Support, Non-U.S. Gov't | G | TBX5 |
12 | 114799974 | rs7312625 | G | A | rs7312625 | 23872634 | 5.46E-04 | NA | 1.42 | [1.16-1.74] | 312 European ancestry cases; 1,115 European ancestry controls | European(1427) | ALL(1427) | EUR(1427) | ALL(1427) | Brugada syndrome | HPOID:0005150 | Abnormal atrioventricular conduction | DOID:0050451 | Brugada syndrome | NA | NA | NA | NA | Cardiovascular disease | rs7312625-A | Research Support, Non-U.S. Gov't | G | TBX5 |
Mapped by lexical matching(Total Items:0) |
---|
(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
---|
(Waiting for update.) |
Chemical(Total Drugs:3) | |||||||||
---|---|---|---|---|---|---|---|---|---|
CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
C1142166 | fluvoxamine | D016666 | 54739-18-3 | brugada syndrome | MESH:D053840 | marker/mechanism | 19875396 | ||
C1142166 | lidocaine | D008012 | 137-58-6 | brugada syndrome | MESH:D053840 | marker/mechanism | 18599870 | ||
C1142166 | nortriptyline | D009661 | 72-69-5 | brugada syndrome | MESH:D053840 | marker/mechanism | 17089931 |
FDA approved drug and dosage information(Total Drugs:0) | |
---|---|
(Waiting for update.) |
FDA labeling changes(Total Drugs:0) | |
---|---|
(Waiting for update.) |