SNTA1 (syntrophin alpha 1)

Gene

• Entrez ID: 6640
• Gene name: Syntrophin alpha 1
• Gene symbol: SNTA1
• Synonyms (NCBI Gene): LQT12, SNT1, TACIP1, dJ1187J4.5
• Chromosome: 20
• Chromosome location: 20q11.21
• Summary: Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs56157422	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs121434500	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs139532210	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign	Intron variant
rs141724500	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs144860423	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs572545726	G>A	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022575	hsa-miR-124-3p	Microarray	18668037

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002027	Process	Regulation of heart rate	IMP	18591664
GO:0003779	Function	Actin binding	IEA
GO:0005198	Function	Structural molecule activity	IEA
GO:0005515	Function	Protein binding	IPI	9356463, 10212242, 16192269, 16533813, 18468998, 19931615, 26617989, 27382054, 28514442, 33961781
GO:0005516	Function	Calmodulin binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006936	Process	Muscle contraction	TAS	8576247
GO:0016010	Component	Dystrophin-associated glycoprotein complex	IBA
GO:0016013	Component	Syntrophin complex	TAS	21164104
GO:0016020	Component	Membrane	IEA
GO:0016328	Component	Lateral plasma membrane	TAS	21164104
GO:0017080	Function	Sodium channel regulator activity	IBA
GO:0017080	Function	Sodium channel regulator activity	IMP	18591664
GO:0030165	Function	PDZ domain binding	IEA
GO:0031594	Component	Neuromuscular junction	IBA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0032991	Component	Protein-containing complex	IDA	18591664
GO:0042383	Component	Sarcolemma	IBA
GO:0042383	Component	Sarcolemma	IEA
GO:0044325	Function	Transmembrane transporter binding	IPI	18591664
GO:0050998	Function	Nitric-oxide synthase binding	IPI	18591664
GO:0051117	Function	ATPase binding	IPI	18591664
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IMP	18591664
GO:0070161	Component	Anchoring junction	IEA
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IBA
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IMP	18591664
GO:1902305	Process	Regulation of sodium ion transmembrane transport	IMP	18591664

Other IDs

• MIM: 601017
• HGNC: 11167
• e!Ensembl: ENSG00000101400

Protein

• UniProt ID: Q13424
• Protein name: Alpha-1-syntrophin (59 kDa dystrophin-associated protein A1 acidic component 1) (Pro-TGF-alpha cytoplasmic domain-interacting protein 1) (TACIP1) (Syntrophin-1)
• Protein function: Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00595	PDZ	87 → 167	PDZ domain	Domain
  PF18012	PH_17	208 → 266	PH domain	Domain
  PF00169	PH	294 → 401	PH domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: High expression in skeletal muscle and heart. Low expression in brain, pancreas, liver, kidney and lung. Not detected in placenta.
• Sequence:

  MASGRRAPRTGLLELRAGAGSGAGGERWQRVLLSLAEDVLTVSPADGDPGPEPGAPREQE
  PAQLNGAAEPGAGPPQLPEALLLQRRRVTVRKADAGGLGISIKGGRENKMPILISKIFKG
  LAADQTEALFVGDAILSVNGEDLSSATHDEAVQVLKKTGKEVVLEVKYMKDVSPYFKNST
  GGTSVGWDSPPASPLQRQPSSPGPTPRNFSEAKHMSLKMAYVSKRCTPNDPEPRYLEICS
  ADGQDTLFLRAKDEASARSWATAIQAQVNTLTPRVKDELQALLAATSTAGSQDIKQIGWL
  TEQLPSGGTAPTLALLTEKELLLYLSLPETREALSRPARTAPLIATRLVHSGPSKGSVPY
  DAELSFALRTGTRHGVDTHLFSVESPQELAAWTRQLVDGCHRAAEGVQEVSTACTWNGRP
  CSLSVHIDKGFTLWAAEPGAARAVLLRQPFEKLQMSSDDGASLLFLDFGGAEGEIQLDLH
  SCPKTIVFIIHSFLSAKVTRLGLLA

• Sequence length: 505

Pathways

KEGG:

Cytoskeleton in muscle cells
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Viral myocarditis

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Atrial fibrillation	Conflicting classifications of pathogenicity	rs121434500	RCV000852541
Becker muscular dystrophy	Conflicting classifications of pathogenicity	rs771180054	RCV000578008
Brugada syndrome	Conflicting classifications of pathogenicity	rs137986136	RCV000157506
Cardiovascular phenotype	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	rs752729935, rs955414123, rs775891730, rs544127915, rs746800138, rs758435546, rs746607636, rs371028127, rs1335742203, rs754521867, rs1476277698, rs949722422, rs761116006, rs780808390, rs1178951223, rs1990629920, rs751651742, rs202178576, rs552509775, rs772004957, rs1280251666, rs374100952, rs371648806, rs1359697782, rs908403821, rs1365956176, rs929041171, rs368660364, rs138863915, rs146134721, rs573772189, rs1160832849, rs1234604785, rs192115867, rs559396761, rs2146814680, rs780098159, rs753294770, rs768194552, rs1288013630, rs2146754197, rs150474420, rs1990636537, rs142483012, rs137986136, rs200316080, rs530603992, rs1990512022, rs370893672, rs770998582, rs376756802, rs1186334279, rs1419918481, rs2515492885, rs1203117110, rs753334914, rs1348837893, rs775740746, rs2515121739, rs1990508951, rs1231782705, rs932909554, rs770142459, rs200777037, rs2515499030, rs2515497594, rs2515499178, rs1192364082, rs561768315, rs1202456575, rs764137450, rs761959794, rs974292570, rs929300152, rs1203159357, rs2515499131, rs2515498228, rs1187500404, rs761957746, rs1251783886, rs1356107978, rs761509610, rs1191388027, rs1388186948, rs768431530, rs758429290, rs1990632849, rs1033217999, rs751981336, rs1023067137, rs571737210, rs935819063, rs2515129935, rs768794681, rs1989708266, rs1990636596, rs1989707288, rs2515129587, rs930505019, rs370531842, rs758491082, rs1403481465, rs887122815, rs1007572324, rs546104057, rs144006909, rs774908810, rs151158866, rs751302839, rs533902889, rs746227626, rs369968387, rs147964932, rs575431717, rs769528459, rs150576530, rs776064801, rs759487225, rs34479952, rs779370807, rs200755101, rs781703999, rs141724500, rs756587722, rs199964677, rs151113230, rs766925398, rs786205844, rs786205843, rs786205842, rs786205848, rs786205841, rs786205847, rs786205846, rs56157422, rs200241523, rs75025585, rs530204062, rs1989917754, rs1332973336, rs373387978, rs1009302553, rs183939417, rs1191500220, rs1989911034, rs35938843, rs1989710547, rs772936861, rs2515492827, rs2515130554, rs121434500, rs769035395, rs112915605, rs1408808872, rs1366051098, rs116747979, rs760108670, rs1462693669, rs886038523, rs73270015, rs144860423, rs139537086, rs771180054, rs533476140, rs34995247, rs552315106, rs886039012, rs572545726, rs778740982, rs1234489874, rs1267154737, rs2515497080, rs2515509617, rs1031085909, rs1989762042, rs1990513713, rs1990634022, rs752864338, rs895391388, rs2515490167, rs1223000642, rs1429235771, rs1416106180, rs866386973, rs766113829, rs2515130126, rs745916117, rs1158625885, rs2515130712, rs2515498195, rs143309917, rs1990632538, rs1432343420, rs2515129982, rs2515129944, rs2515129901, rs1273056602, rs1314800177, rs1199111230, rs774195790, rs1989909164, rs200454417, rs770192754, rs755952317, rs2515498236, rs2515497196, rs1056810203, rs1989704412, rs2515130441, rs771053140, rs367662513, rs1464994264, rs559827815, rs886056627, rs754648214, rs771369802, rs775580363, rs34901081, rs763351253, rs200865199, rs138164106, rs1057524281, rs144465646, rs747390007, rs754862058, rs956270311, rs774643587, rs149126874, rs201763667, rs142978180, rs567451585, rs188835994, rs780018849, rs1216164802, rs141775350, rs747104878, rs774320273, rs963277918, rs763371307, rs536755693, rs541665582, rs765352601, rs1335638175, rs746780665, rs764093818, rs555231776, rs1221002090, rs760768761, rs142580715, rs200709948, rs373610918, rs949573711, rs1555822209, rs767361112, rs1374381593, rs201485963, rs570991600, rs139467962, rs1200381592, rs754242619, rs775932782, rs113809208, rs1012069434, rs1600844808, rs182320044, rs144821472, rs1014697667, rs980437334, rs780680201, rs760527177, rs113412654, rs761467167, rs780011608, rs199762207, rs1471172997, rs1030135305, rs1989758393, rs750459988, rs747367304, rs755986911, rs35168199, rs1990635539, rs768667646, rs1463586615, rs766990229	RCV004035107 RCV002383215 RCV004035971 RCV004671351 RCV002384537 RCV002432091 RCV002438934 RCV004037792 RCV002432079 RCV004995854 RCV005278860 RCV002359048 RCV004037442 RCV002334518 RCV002439170 RCV005493059 RCV004995944 RCV002334646 RCV002324182 RCV003163861 RCV005493075 RCV002389023 RCV002386902 RCV002454321 RCV002334887 RCV002343917 RCV006357094 RCV005493206 RCV000247178 RCV003298145 RCV000619165 RCV005483077 RCV004990535 RCV003303385 RCV004038930 RCV003299068 RCV003167099 RCV006352457 RCV002331605 RCV004045060 RCV006357379 RCV002391381 RCV002325941 RCV002445446 RCV002408707 RCV000618960 RCV000621647 RCV002355605 RCV002457275 RCV002452291 RCV002452149 RCV002363882 RCV002331876 RCV002335268 RCV002335293 RCV002358003 RCV002358154 RCV002355749 RCV002330341 RCV002342116 RCV002337716 RCV002343090 RCV002340804 RCV002371138 RCV002396246 RCV002371256 RCV002378428 RCV002393824 RCV002373404 RCV002409810 RCV002427806 RCV002427879 RCV002374118 RCV002378203 RCV002364928 RCV002380286 RCV002375951 RCV002376128 RCV002376233 RCV002383306 RCV002383447 RCV002389857 RCV002389872 RCV002398600 RCV002387328 RCV002387574 RCV002387671 RCV002405761 RCV002396939 RCV002401239 RCV002404198 RCV002380941 RCV002414626 RCV002432704 RCV002430551 RCV002450562 RCV002441547 RCV002439676 RCV002444094 RCV002437665 RCV002390400 RCV005281305 RCV003171041 RCV003171061 RCV005744594 RCV004070334 RCV003166925 RCV000620667 RCV002372066 RCV004020043 RCV002390408 RCV002433741 RCV002453587 RCV000243691 RCV002381547 RCV003165350 RCV002408740 RCV002399609 RCV002390407 RCV002362873 RCV002362872 RCV002345577 RCV003298203 RCV000618648 RCV003165351 RCV002354425 RCV002345576 RCV002433740 RCV003298202 RCV004020042 RCV006342743 RCV002399610 RCV003165349 RCV000618166 RCV000246049 RCV000247418 RCV004668830 RCV000250468 RCV004073101 RCV003294532 RCV005495343 RCV003164780 RCV002345666 RCV004066174 RCV000619143 RCV004990949 RCV004100946 RCV000243727 RCV004100312 RCV002336582 RCV004146312 RCV004150928 RCV004177522 RCV002326671 RCV003176538 RCV003165321 RCV003165322 RCV003165323 RCV000617972 RCV003216336 RCV005744644 RCV002450777 RCV000245165 RCV000251711 RCV000246676 RCV000245286 RCV000242319 RCV000248085 RCV000246981 RCV000251865 RCV000252164 RCV003384365 RCV003296664 RCV003296665 RCV003296666 RCV003296667 RCV003296668 RCV003296670 RCV003296671 RCV004357573 RCV003377738 RCV003377739 RCV003377740 RCV003377741 RCV003377742 RCV003377743 RCV004362804 RCV005485437 RCV006347806 RCV004374279 RCV005281498 RCV004464426 RCV004464427 RCV000621170 RCV004508467 RCV004508468 RCV004508469 RCV004508470 RCV004508471 RCV004508472 RCV004508473 RCV004508474 RCV004508475 RCV004508476 RCV004508477 RCV004508478 RCV004508479 RCV004508480 RCV004508481 RCV004508461 RCV004508462 RCV004508463 RCV004508464 RCV004508465 RCV004508466 RCV004992182 RCV003168516 RCV003298397 RCV002348091 RCV000620625 RCV002392959 RCV006342275 RCV000617690 RCV002339102 RCV005278564 RCV002418333 RCV002365511 RCV005742039 RCV003168631 RCV000617628 RCV000619616 RCV000620167 RCV004022899 RCV002429552 RCV000620309 RCV003302735 RCV002395247 RCV002456003 RCV002448568 RCV000620271 RCV002420361 RCV005268640 RCV002367992 RCV005742072 RCV002420564 RCV000621139 RCV002448904 RCV002395587 RCV002456353 RCV002431765 RCV002404697 RCV002334015 RCV000621514 RCV000622201 RCV000621862 RCV000620278 RCV000619650 RCV000619484 RCV000621198 RCV002457997 RCV002431865 RCV002388014 RCV002325211 RCV002406496 RCV003165887 RCV002422578 RCV002397523 RCV006342539 RCV002388407 RCV004028191 RCV002345921 RCV002345945 RCV002345994 RCV004027740 RCV002390782 RCV002390849 RCV002332838 RCV005278701 RCV002372559 RCV003307782 RCV002363532 RCV003372937 RCV005742150 RCV005492944 RCV002429777 RCV004032714 RCV004994264 RCV002320370 RCV002375035 RCV004032391 RCV002356908 RCV004994330 RCV004036020 RCV003373111
Congenital long QT syndrome	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs138863915, rs751302839, rs150576530, rs786205841, rs35938843, rs116747979, rs73270015, rs34995247, rs78892511, rs143309917, rs879769686, rs536994978, rs41305789, rs150740903, rs559827815, rs116972153, rs886056627, rs886056628, rs145471317, rs748801869, rs754648214, rs550104436, rs116151218, rs565582070, rs771369802, rs750278583, rs886056626, rs775580363, rs886056629, rs886056630, rs57684257	RCV000404723 RCV000365827 RCV000266318 RCV000342871 RCV000347021 RCV000308797 RCV000358763 RCV000318116 RCV000404298 RCV000295568 RCV000269953 RCV000379184 RCV000377650 RCV000342949 RCV000314517 RCV000388429 RCV000347787 RCV000402923 RCV000311368 RCV000323354 RCV000387494 RCV000396958 RCV000335013 RCV000279739 RCV000349505 RCV000259983 RCV000374416 RCV000352989 RCV000331608 RCV000275721 RCV000384339 RCV000283064
Dilated cardiomyopathy 3B	Conflicting classifications of pathogenicity	rs771180054	RCV000578061
Duchenne muscular dystrophy	Conflicting classifications of pathogenicity	rs771180054	RCV000577950
Long QT syndrome	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	rs752729935, rs780688953, rs955414123, rs1990630503, rs775891730, rs1989910947, rs1430826527, rs544127915, rs746800138, rs1390997295, rs1989702879, rs758435546, rs138863915, rs746607636, rs371028127, rs2146814454, rs1335742203, rs754521867, rs763466091, rs1476277698, rs949722422, rs2146815323, rs761116006, rs780808390, rs1178951223, rs2146814729, rs1335292078, rs751651742, rs202178576, rs552509775, rs1273480938, rs772004957, rs1280251666, rs374100952, rs750525497, rs2146757757, rs371648806, rs1359697782, rs908403821, rs978530002, rs1365956176, rs1989709760, rs929041171, rs2146763231, rs368660364, rs376695170, rs146134721, rs573772189, rs773906766, rs1362176861, rs2146773187, rs1160832849, rs2146762566, rs1989763108, rs749476668, rs113809208, rs750278583, rs1234604785, rs192115867, rs559396761, rs2146814680, rs780098159, rs753294770, rs768194552, rs2146757905, rs2146808266, rs1178809115, rs765352601, rs1288013630, rs752864338, rs2146808171, rs752630265, rs1421000101, rs1181358730, rs998028927, rs774320273, rs1989701964, rs1283111325, rs150474420, rs142483012, rs137986136, rs200316080, rs530603992, rs370893672, rs1419918481, rs1348837893, rs932909554, rs200777037, rs2515499030, rs2515497594, rs561768315, rs974292570, rs929300152, rs1388186948, rs1033217999, rs751981336, rs935819063, rs2515129587, rs370531842, rs758491082, rs753535656, rs1403481465, rs887122815, rs1007572324, rs546104057, rs768377696, rs144006909, rs375603980, rs772600822, rs151158866, rs533902889, rs779500941, rs147964932, rs575431717, rs769528459, rs150576530, rs776064801, rs759487225, rs34479952, rs200755101, rs781703999, rs141724500, rs756587722, rs199964677, rs139532210, rs766925398, rs786205844, rs786205842, rs786205848, rs786205841, rs786205847, rs786205846, rs1990636962, rs786205426, rs201571071, rs56157422, rs201405395, rs201421292, rs75025585, rs2515492819, rs530204062, rs981085711, rs1989917754, rs754989824, rs771853485, rs1332973336, rs1568748410, rs1299230902, rs373387978, rs1600837421, rs962887472, rs2515509348, rs774186772, rs891869271, rs769159253, rs1293141729, rs769142787, rs1177338891, rs2146815337, rs2146814394, rs1009302553, rs1990506424, rs746227626, rs183939417, rs1191500220, rs2515489978, rs2515488964, rs763056064, rs35938843, rs772936861, rs121434500, rs761024617, rs116747979, rs73270015, rs144860423, rs139537086, rs771180054, rs533476140, rs34995247, rs886039012, rs572545726, rs1031085909, rs1989762042, rs895391388, rs2515130604, rs975594577, rs765356004, rs752552345, rs745399685, rs766113829, rs2515509754, rs2515130300, rs1989760531, rs6057846, rs771413940, rs752149940, rs1384379291, rs2515130126, rs774643587, rs1989774960, rs780588094, rs1353878571, rs749357105, rs745916117, rs1349931176, rs1322304796, rs780208353, rs1989772380, rs2515492942, rs2515497378, rs954667824, rs1158625885, rs1164892695, rs777543151, rs2515489957, rs896110432, rs143309917, rs879769686, rs1314800177, rs200454417, rs2515498236, rs1056810203, rs559827815, rs116972153, rs748801869, rs771369802, rs775580363, rs886056630, rs34901081, rs763351253, rs200865199, rs138164106, rs1057524281, rs554224001, rs144465646, rs747390007, rs754862058, rs552315106, rs956270311, rs1060504991, rs1060503675, rs149126874, rs201763667, rs142978180, rs567451585, rs188835994, rs1241571413, rs780018849, rs1216164802, rs141775350, rs1555818113, rs747104878, rs963277918, rs763371307, rs536755693, rs746145193, rs541665582, rs1441274981, rs1335638175, rs746780665, rs764093818, rs555231776, rs1221002090, rs200709948, rs767361112, rs1374381593, rs201485963, rs1555816721, rs1555816772, rs570991600, rs139467962, rs1187536758, rs1200381592, rs1568746798, rs1568745550, rs754242619, rs1012069434, rs750125166, rs141844806, rs200764326, rs182320044, rs144821472, rs1014697667, rs980437334, rs780680201, rs760527177, rs375515058, rs199762207, rs1471172997, rs1989651824, rs1030135305, rs1990629807, rs1990633233, rs1366644642, rs750459988, rs755986911, rs369876616, rs35168199, rs1425754256, rs1990635539, rs768667646, rs1463586615, rs766990229, rs1489981173	RCV001323693 RCV001315871 RCV003647919 RCV003647837 RCV001341714 RCV001337872 RCV001344355 RCV001342886 RCV001371295 RCV001365421 RCV001371263 RCV001395265 RCV001400323 RCV001404600 RCV001398301 RCV001419856 RCV001392140 RCV001460809 RCV001465666 RCV001462384 RCV001469682 RCV001452636 RCV001503593 RCV001489612 RCV001487455 RCV001493727 RCV001485100 RCV002568384 RCV002538638 RCV003771977 RCV002544012 RCV005057585 RCV005095006 RCV001999690 RCV002027694 RCV001999206 RCV002014249 RCV002049089 RCV001947915 RCV002051117 RCV001901910 RCV002023524 RCV001954942 RCV001998239 RCV002022102 RCV002055812 RCV000195833 RCV000867866 RCV000197104 RCV001971718 RCV002040297 RCV002048031 RCV002009403 RCV001994159 RCV001900601 RCV002005567 RCV001936468 RCV001906439 RCV002000811 RCV001945461 RCV002049438 RCV001934915 RCV001935277 RCV001863530 RCV002022416 RCV001997747 RCV001986067 RCV002084463 RCV002170245 RCV002180342 RCV002112773 RCV002188979 RCV002128135 RCV002178877 RCV002172803 RCV002111984 RCV002176939 RCV002072882 RCV003533149 RCV003094165 RCV003099305 RCV001058598 RCV000225771 RCV000529567 RCV003775634 RCV003094636 RCV003647898 RCV005096717 RCV003098521 RCV003647906 RCV003647915 RCV003776529 RCV003647916 RCV003098439 RCV005097622 RCV003533230 RCV003095205 RCV005097648 RCV003097124 RCV003647940 RCV000168024 RCV003060399 RCV003066642 RCV003062995 RCV003074639 RCV003051090 RCV003062951 RCV001852059 RCV001902770 RCV005089858 RCV003765069 RCV003647749 RCV000470910 RCV002054025 RCV000796538 RCV000559623 RCV001852058 RCV000206185 RCV003647748 RCV001852057 RCV000558137 RCV000631640 RCV001852056 RCV001079048 RCV001340450 RCV001035520 RCV002054026 RCV000540961 RCV001852055 RCV003060424 RCV000705669 RCV000285552 RCV000232080 RCV000458749 RCV003092232 RCV000190224 RCV002515252 RCV000171774 RCV001359789 RCV001059988 RCV000228099 RCV003076094 RCV003082046 RCV002615275 RCV002612223 RCV002575873 RCV002575928 RCV002571868 RCV002575379 RCV002621811 RCV002610071 RCV003532046 RCV002675872 RCV002720351 RCV002771601 RCV002756615 RCV002805254 RCV002776510 RCV002806757 RCV002870934 RCV002846764 RCV002829451 RCV002847263 RCV002909054 RCV002922276 RCV002948163 RCV002967950 RCV000199737 RCV002988795 RCV003021206 RCV003020173 RCV003036770 RCV000204990 RCV003765347 RCV000852541 RCV005099259 RCV000231537 RCV000302637 RCV001213908 RCV000863151 RCV001859463 RCV000862814 RCV000375094 RCV001053893 RCV000406481 RCV003647970 RCV005061221 RCV003778118 RCV003533933 RCV003534010 RCV003531475 RCV003531597 RCV003531599 RCV003531777 RCV003531872 RCV003532438 RCV003532407 RCV003532419 RCV003647429 RCV003647684 RCV003648351 RCV003648524 RCV003648715 RCV003648742 RCV003648805 RCV003648843 RCV003648953 RCV003648865 RCV003649073 RCV003649020 RCV003649038 RCV003649093 RCV003810923 RCV003833961 RCV003831610 RCV003833806 RCV003831188 RCV003849597 RCV003848143 RCV003855066 RCV003874650 RCV003873546 RCV003871477 RCV003881014 RCV000352839 RCV000362225 RCV005100442 RCV005100443 RCV005100444 RCV005065187 RCV001473186 RCV000296375 RCV002057732 RCV001342404 RCV001861164 RCV000327401 RCV000465904 RCV003532115 RCV000686555 RCV001244316 RCV001297825 RCV002063646 RCV000867508 RCV003532104 RCV000867320 RCV000553298 RCV000862729 RCV000631841 RCV001457732 RCV000463569 RCV000462505 RCV000476847 RCV000469122 RCV001346075 RCV000808870 RCV001349981 RCV002525110 RCV000690889 RCV001050099 RCV000226523 RCV000529919 RCV000551938 RCV000546924 RCV000545750 RCV000539589 RCV000532923 RCV002530927 RCV001233106 RCV000687591 RCV002066788 RCV000861062 RCV002065383 RCV000870241 RCV003532188 RCV003647786 RCV005091603 RCV001499140 RCV000704261 RCV002528750 RCV001358998 RCV000631855 RCV000631638 RCV001415643 RCV000631838 RCV000631759 RCV000631767 RCV000631595 RCV002536318 RCV002531398 RCV000703012 RCV000689306 RCV000699794 RCV000702428 RCV005092170 RCV005092326 RCV000804714 RCV000809380 RCV001078874 RCV005092484 RCV002067473 RCV003768641 RCV001500478 RCV002539016 RCV001409423 RCV001447852 RCV001498814 RCV001300720 RCV002549149 RCV005093020 RCV001042535 RCV001042674 RCV001053396 RCV001039959 RCV001047743 RCV002559372 RCV005093604 RCV003647825 RCV002070637 RCV001220408 RCV001211173 RCV001212905 RCV001210298 RCV001296088 RCV001301677 RCV001303154 RCV001303337 RCV001296955
Long QT syndrome 1	Conflicting classifications of pathogenicity; Uncertain significance	rs141724500, rs56157422, rs1990637527	RCV000990300 RCV000990299 RCV001256963
Long QT syndrome 12	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs752729935, rs1990630503, rs775891730, rs1430826527, rs1390997295, rs202178576, rs552509775, rs371648806, rs376695170, rs138863915, rs573772189, rs1989763108, rs768194552, rs200316080, rs370531842, rs768377696, rs144006909, rs751302839, rs533902889, rs147964932, rs575431717, rs150576530, rs759487225, rs779370807, rs200755101, rs781703999, rs141724500, rs756587722, rs766925398, rs786205848, rs786205841, rs786205846, rs786205426, rs56157422, rs201421292, rs75025585, rs981085711, rs373387978, rs183939417, rs35938843, rs121434500, rs1989653209, rs116747979, rs73270015, rs144860423, rs139537086, rs771180054, rs34995247, rs886039012, rs572545726, rs78892511, rs143309917, rs536994978, rs41305789, rs150740903, rs559827815, rs116972153, rs886056627, rs886056628, rs145471317, rs748801869, rs754648214, rs550104436, rs116151218, rs565582070, rs771369802, rs750278583, rs886056626, rs775580363, rs886056629, rs57684257, rs34901081, rs138164106, rs751651742, rs1135401951, rs567451585, rs188835994, rs6057846, rs963277918, rs767361112, rs139467962, rs1187536758, rs754242619, rs113809208, rs1012069434, rs531929083, rs291694, rs375515058, rs199762207, rs1471172997, rs566401281, rs1222182431, rs187657721, rs757013849, rs1989758393, rs750459988, rs371028127, rs1989777102, rs747367304, rs533476140, rs755986911, rs921708182, rs1990639431, rs930437100, rs369876616, rs35168199, rs1463586615	RCV002476523 RCV001331019 RCV002504535 RCV002504539 RCV002499741 RCV002496028 RCV002489767 RCV002479775 RCV002492490 RCV001094718 RCV001136818 RCV003136236 RCV002486639 RCV003224177 RCV001136715 RCV001136713 RCV002490122 RCV000265998 RCV002485081 RCV001138961 RCV001138963 RCV000678949 RCV002485080 RCV002485079 RCV002485083 RCV000765488 RCV001143394 RCV002485084 RCV002492708 RCV001197325 RCV001094618 RCV002485082 RCV002498861 RCV000191018 RCV000522990 RCV001094617 RCV005636750 RCV000185534 RCV001286347 RCV001001581 RCV000008997 RCV003138555 RCV001094612 RCV001094719 RCV000624991 RCV001143392 RCV000578006 RCV001094752 RCV001264842 RCV000624992 RCV000310976 RCV001094661 RCV000287103 RCV000285617 RCV000392048 RCV000362322 RCV001094753 RCV000290382 RCV000298302 RCV000368420 RCV000380288 RCV000348902 RCV000355767 RCV000392039 RCV000337077 RCV000395634 RCV000317445 RCV000282270 RCV000260528 RCV000274218 RCV000333141 RCV000321693 RCV001136714 RCV002480330 RCV001136817 RCV000496512 RCV002496913 RCV002481701 RCV002506296 RCV001803869 RCV002483780 RCV002485491 RCV000678954 RCV002477620 RCV000755690 RCV002487609 RCV002487718 RCV001139062 RCV001809856 RCV001803192 RCV001001021 RCV001001979 RCV001143290 RCV001143291 RCV001143292 RCV001143293 RCV001138962 RCV001141563 RCV001141564 RCV001141565 RCV001143393 RCV001136816 RCV001136819 RCV001139059 RCV001139060 RCV001139061 RCV001138960 RCV002480725 RCV002486123
Long QT syndrome 2	Likely benign	rs755263941	RCV000497758
Primary dilated cardiomyopathy	Benign; Likely benign	rs75025585	RCV000852949
Sick sinus syndrome	Uncertain significance	rs199964677	RCV000515802
SNTA1-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	rs1178951223, rs765352601, rs1990508951, rs34479952, rs56157422, rs183939417, rs572545726, rs866386973, rs139532210, rs1399933359, rs746780665	RCV003938869 RCV003950885 RCV003933753 RCV003975245 RCV003917588 RCV003947646 RCV003920009 RCV003412219 RCV003934860 RCV003980069 RCV003935673
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs113809208	RCV005924222
Ventricular fibrillation	Uncertain significance	rs730880217	RCV000157507
Ventricular fibrillation, paroxysmal familial, type 1	Conflicting classifications of pathogenicity	rs530603992	RCV000157504
Ventricular tachycardia	Conflicting classifications of pathogenicity	rs572545726	RCV000852950
Wolff-Parkinson-White pattern	Conflicting classifications of pathogenicity	rs147964932	RCV000656217

Associations from Text Mining
Disease Name	Relationship Type	References
Arrhythmias Cardiac	Inhibit	35762211
Arrhythmias Cardiac	Associate	35773684
Breast Neoplasms	Associate	24434436
Cardiomyopathies	Associate	35773684
Cardiomyopathy Hypertrophic	Associate	35773684
Dementia	Associate	30120299
Disease	Associate	35773684
Dissection Blood Vessel	Associate	22617347
Immunoglobulin G4 Related Disease	Associate	35773684
Immunologic Deficiency Syndromes	Stimulate	35773684
Iron Refractory Iron Deficiency Anemia	Associate	35773684
Keratoconus	Associate	31467338
Long QT Syndrome	Associate	20809527, 23376825, 36528013
Muscular Dystrophy Duchenne	Associate	23426965
Neoplasm Metastasis	Associate	16164832
Neoplasms	Associate	24434436
Parkinson Disease	Associate	34092653
Syncope	Associate	23376825
Syndrome	Associate	23376825