SCN4B (sodium voltage-gated channel beta subunit 4)

Gene

• Entrez ID: 6330
• Gene name: Sodium voltage-gated channel beta subunit 4
• Gene symbol: SCN4B
• Synonyms (NCBI Gene): ATFB17, LQT10, Navbeta4
• Chromosome: 11
• Chromosome location: 11q23.3
• Summary: The protein encoded by this gene is one of several sodium channel beta subunits. These subunits interact with voltage-gated alpha subunits to change sodium channel kinetics. The encoded transmembrane protein forms interchain disulfide bonds with SCN2A. De

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs112363898	T>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, intron variant
rs121434386	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs149868494	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs587777559	A>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs587777560	T>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs777894412	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023310	hsa-miR-122-5p	Microarray	17612493
MIRT1330109	hsa-let-7a	CLIP-seq
MIRT1330110	hsa-let-7b	CLIP-seq
MIRT1330111	hsa-let-7c	CLIP-seq
MIRT1330112	hsa-let-7d	CLIP-seq
MIRT1330113	hsa-let-7e	CLIP-seq
MIRT1330114	hsa-let-7f	CLIP-seq
MIRT1330115	hsa-let-7g	CLIP-seq
MIRT1330116	hsa-let-7i	CLIP-seq
MIRT1330117	hsa-miR-1207-3p	CLIP-seq
MIRT1330118	hsa-miR-1252	CLIP-seq
MIRT1330119	hsa-miR-1273f	CLIP-seq
MIRT1330120	hsa-miR-1294	CLIP-seq
MIRT1330121	hsa-miR-132	CLIP-seq
MIRT1330122	hsa-miR-1321	CLIP-seq
MIRT1330123	hsa-miR-143	CLIP-seq
MIRT1330124	hsa-miR-15a	CLIP-seq
MIRT1330125	hsa-miR-15b	CLIP-seq
MIRT1330126	hsa-miR-16	CLIP-seq
MIRT1330127	hsa-miR-1909	CLIP-seq
MIRT1330128	hsa-miR-1910	CLIP-seq
MIRT1330129	hsa-miR-1913	CLIP-seq
MIRT1330130	hsa-miR-1914	CLIP-seq
MIRT1330131	hsa-miR-1915	CLIP-seq
MIRT1330132	hsa-miR-193a-3p	CLIP-seq
MIRT1330133	hsa-miR-193b	CLIP-seq
MIRT1330134	hsa-miR-195	CLIP-seq
MIRT1330135	hsa-miR-202	CLIP-seq
MIRT1330136	hsa-miR-2110	CLIP-seq
MIRT1330137	hsa-miR-212	CLIP-seq
MIRT1330138	hsa-miR-3117-5p	CLIP-seq
MIRT1330139	hsa-miR-3150a-3p	CLIP-seq
MIRT1330140	hsa-miR-3153	CLIP-seq
MIRT1330141	hsa-miR-3162-3p	CLIP-seq
MIRT1330142	hsa-miR-3162-5p	CLIP-seq
MIRT739050	hsa-miR-3188	CLIP-seq
MIRT1330143	hsa-miR-324-3p	CLIP-seq
MIRT1330144	hsa-miR-3614-5p	CLIP-seq
MIRT1330145	hsa-miR-3620	CLIP-seq
MIRT1330146	hsa-miR-3646	CLIP-seq
MIRT1330147	hsa-miR-3944-5p	CLIP-seq
MIRT1330148	hsa-miR-424	CLIP-seq
MIRT1330149	hsa-miR-4265	CLIP-seq
MIRT1330150	hsa-miR-4268	CLIP-seq
MIRT1330151	hsa-miR-4271	CLIP-seq
MIRT1330152	hsa-miR-4287	CLIP-seq
MIRT1330153	hsa-miR-4296	CLIP-seq
MIRT1330154	hsa-miR-4312	CLIP-seq
MIRT1330155	hsa-miR-4316	CLIP-seq
MIRT1330156	hsa-miR-4318	CLIP-seq
MIRT1330157	hsa-miR-4322	CLIP-seq
MIRT1330158	hsa-miR-4417	CLIP-seq
MIRT1330159	hsa-miR-4434	CLIP-seq
MIRT1330160	hsa-miR-4436a	CLIP-seq
MIRT1330161	hsa-miR-4436b-5p	CLIP-seq
MIRT1330162	hsa-miR-4446-3p	CLIP-seq
MIRT739049	hsa-miR-4446-5p	CLIP-seq
MIRT1330163	hsa-miR-4448	CLIP-seq
MIRT1330164	hsa-miR-4458	CLIP-seq
MIRT1330165	hsa-miR-4468	CLIP-seq
MIRT1330166	hsa-miR-4469	CLIP-seq
MIRT1330167	hsa-miR-4475	CLIP-seq
MIRT1330168	hsa-miR-4492	CLIP-seq
MIRT1330169	hsa-miR-4498	CLIP-seq
MIRT1330170	hsa-miR-4499	CLIP-seq
MIRT1330171	hsa-miR-4500	CLIP-seq
MIRT1330172	hsa-miR-4503	CLIP-seq
MIRT1330173	hsa-miR-4504	CLIP-seq
MIRT1330174	hsa-miR-4505	CLIP-seq
MIRT1330175	hsa-miR-4516	CLIP-seq
MIRT1330176	hsa-miR-4522	CLIP-seq
MIRT1330177	hsa-miR-4641	CLIP-seq
MIRT1330178	hsa-miR-4646-5p	CLIP-seq
MIRT1330179	hsa-miR-4662a-3p	CLIP-seq
MIRT1330180	hsa-miR-4668-5p	CLIP-seq
MIRT1330181	hsa-miR-4677-3p	CLIP-seq
MIRT1330182	hsa-miR-4679	CLIP-seq
MIRT1330183	hsa-miR-4685-3p	CLIP-seq
MIRT1330184	hsa-miR-4685-5p	CLIP-seq
MIRT1330185	hsa-miR-4691-3p	CLIP-seq
MIRT1330186	hsa-miR-4701-5p	CLIP-seq
MIRT1330187	hsa-miR-4708-5p	CLIP-seq
MIRT1330188	hsa-miR-4709-5p	CLIP-seq
MIRT1330189	hsa-miR-4711-5p	CLIP-seq
MIRT1330190	hsa-miR-4713-5p	CLIP-seq
MIRT1330191	hsa-miR-4725-3p	CLIP-seq
MIRT1330192	hsa-miR-4739	CLIP-seq
MIRT739048	hsa-miR-4755-5p	CLIP-seq
MIRT1330193	hsa-miR-4756-5p	CLIP-seq
MIRT1330194	hsa-miR-4770	CLIP-seq
MIRT1330195	hsa-miR-497	CLIP-seq
MIRT1330196	hsa-miR-542-3p	CLIP-seq
MIRT1330197	hsa-miR-548a-3p	CLIP-seq
MIRT1330198	hsa-miR-548e	CLIP-seq
MIRT1330199	hsa-miR-548f	CLIP-seq
MIRT1330200	hsa-miR-548g	CLIP-seq
MIRT1330201	hsa-miR-588	CLIP-seq
MIRT1330202	hsa-miR-646	CLIP-seq
MIRT739047	hsa-miR-670	CLIP-seq
MIRT1330203	hsa-miR-762	CLIP-seq
MIRT1330204	hsa-miR-922	CLIP-seq
MIRT1330205	hsa-miR-98	CLIP-seq
MIRT739050	hsa-miR-3188	CLIP-seq
MIRT739049	hsa-miR-4446-5p	CLIP-seq
MIRT739048	hsa-miR-4755-5p	CLIP-seq
MIRT739047	hsa-miR-670	CLIP-seq
MIRT739050	hsa-miR-3188	CLIP-seq
MIRT739049	hsa-miR-4446-5p	CLIP-seq
MIRT739048	hsa-miR-4755-5p	CLIP-seq
MIRT739047	hsa-miR-670	CLIP-seq
MIRT739050	hsa-miR-3188	CLIP-seq
MIRT739049	hsa-miR-4446-5p	CLIP-seq
MIRT739048	hsa-miR-4755-5p	CLIP-seq
MIRT739047	hsa-miR-670	CLIP-seq
MIRT739050	hsa-miR-3188	CLIP-seq
MIRT739049	hsa-miR-4446-5p	CLIP-seq
MIRT739048	hsa-miR-4755-5p	CLIP-seq
MIRT739047	hsa-miR-670	CLIP-seq
MIRT739050	hsa-miR-3188	CLIP-seq
MIRT739049	hsa-miR-4446-5p	CLIP-seq
MIRT739048	hsa-miR-4755-5p	CLIP-seq
MIRT739047	hsa-miR-670	CLIP-seq
MIRT739050	hsa-miR-3188	CLIP-seq
MIRT739049	hsa-miR-4446-5p	CLIP-seq
MIRT739048	hsa-miR-4755-5p	CLIP-seq
MIRT739047	hsa-miR-670	CLIP-seq
MIRT2097805	hsa-miR-1233	CLIP-seq
MIRT2097806	hsa-miR-1273d	CLIP-seq
MIRT2097807	hsa-miR-3120-5p	CLIP-seq
MIRT739050	hsa-miR-3188	CLIP-seq
MIRT2097808	hsa-miR-346	CLIP-seq
MIRT2097809	hsa-miR-3663-5p	CLIP-seq
MIRT2097810	hsa-miR-4288	CLIP-seq
MIRT2097811	hsa-miR-4308	CLIP-seq
MIRT739049	hsa-miR-4446-5p	CLIP-seq
MIRT2097812	hsa-miR-4447	CLIP-seq
MIRT2097813	hsa-miR-4472	CLIP-seq
MIRT2097814	hsa-miR-4527	CLIP-seq
MIRT2097815	hsa-miR-4723-5p	CLIP-seq
MIRT739048	hsa-miR-4755-5p	CLIP-seq
MIRT2097816	hsa-miR-4797-3p	CLIP-seq
MIRT2097817	hsa-miR-632	CLIP-seq
MIRT739047	hsa-miR-670	CLIP-seq
MIRT2097818	hsa-miR-767-3p	CLIP-seq
MIRT2097819	hsa-miR-939	CLIP-seq
MIRT2322112	hsa-miR-1202	CLIP-seq
MIRT2322113	hsa-miR-3184	CLIP-seq
MIRT2322114	hsa-miR-3194-5p	CLIP-seq
MIRT2322115	hsa-miR-3926	CLIP-seq
MIRT2322116	hsa-miR-3972	CLIP-seq
MIRT2322117	hsa-miR-423-5p	CLIP-seq
MIRT1330149	hsa-miR-4265	CLIP-seq
MIRT1330153	hsa-miR-4296	CLIP-seq
MIRT1330157	hsa-miR-4322	CLIP-seq
MIRT1330158	hsa-miR-4417	CLIP-seq
MIRT2322118	hsa-miR-4728-5p	CLIP-seq
MIRT2322119	hsa-miR-548s	CLIP-seq
MIRT739047	hsa-miR-670	CLIP-seq
MIRT739049	hsa-miR-4446-5p	CLIP-seq
MIRT2432935	hsa-miR-4740-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001518	Component	Voltage-gated sodium channel complex	IBA
GO:0001518	Component	Voltage-gated sodium channel complex	IDA	12930796, 17592081
GO:0001518	Component	Voltage-gated sodium channel complex	IMP	24297919
GO:0005248	Function	Voltage-gated sodium channel activity	IDA	12930796
GO:0005248	Function	Voltage-gated sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	24297919
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IDA	12930796
GO:0006814	Process	Sodium ion transport	IEA
GO:0010765	Process	Positive regulation of sodium ion transport	IDA	17592081
GO:0014704	Component	Intercalated disc	IEA
GO:0014704	Component	Intercalated disc	ISS
GO:0016020	Component	Membrane	IEA
GO:0017080	Function	Sodium channel regulator activity	IBA
GO:0017080	Function	Sodium channel regulator activity	IDA	17592081, 24297919
GO:0019228	Process	Neuronal action potential	IDA	24297919
GO:0035725	Process	Sodium ion transmembrane transport	IDA	20226894
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0044325	Function	Transmembrane transporter binding	IBA
GO:0044325	Function	Transmembrane transporter binding	IPI	17592081
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060048	Process	Cardiac muscle contraction	IMP	17592081
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IBA
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IMP	17592081
GO:0061337	Process	Cardiac conduction	IBA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IBA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IMP	17592081
GO:0086006	Function	Voltage-gated sodium channel activity involved in cardiac muscle cell action potential	IMP	17592081
GO:0086012	Process	Membrane depolarization during cardiac muscle cell action potential	IBA
GO:0086012	Process	Membrane depolarization during cardiac muscle cell action potential	IMP	17592081
GO:0086016	Process	AV node cell action potential	IMP	17592081
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	17592081

Other IDs

• MIM: 608256
• HGNC: 10592
• e!Ensembl: ENSG00000177098

Protein

• UniProt ID: Q8IWT1
• Protein name: Sodium channel regulatory subunit beta-4
• Protein function: Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by swi
• PDB: 4MZ2, 4MZ3, 5XAW, 6VSV, 7DTD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07686	V-set	37 → 151	Immunoglobulin V-set domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed at a high level in dorsal root ganglia, at a lower level in brain, spinal cord, skeletal muscle and heart. Expressed in the atrium. {ECO:0000269|PubMed:12930796, ECO:0000269|PubMed:21051419}.
• Sequence:

  MPGAGDGGKAPARWLGTGLLGLFLLPVTLSLEVSVGKATDIYAVNGTEILLPCTFSSCFG
  FEDLHFRWTYNSSDAFKILIEGTVKNEKSDPKVTLKDDDRITLVGSTKEKMNNISIVLRD
  LEFSDTGKYTCHVKNPKENNLQHHATIFLQVVDRLEEVDNTVTLIILAVVGGVIGLLILI
  LLIKKLIIFILKKTREKKKECLVSSSGNDNTENGLPGSKAEEKPPSKV

• Sequence length: 228

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Atrial fibrillation, familial, 17	Pathogenic	rs587777559, rs587777560	RCV000128816 RCV000128817

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cardiovascular phenotype	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs1565455142, rs950065814, rs1948135887, rs746892195, rs1332884912, rs770446500, rs371609756, rs769406938, rs201454653, rs773921790, rs72546675, rs368141412, rs746647997, rs1322792651, rs1341627207, rs761173704, rs72544155, rs45539032, rs762777113, rs1418864816, rs144127307, rs755861941, rs1306208725, rs771504011, rs2497564176, rs2497579422, rs1353607051, rs2497563989, rs1325424037, rs1948132022, rs1318236635, rs2497563903, rs2497558461, rs2497558467, rs898953021, rs1948093663, rs765314321, rs111905160, rs774739091, rs894417224, rs780942320, rs149457565, rs2497558109, rs1230446349, rs1352900290, rs2497563679, rs2497579365, rs1299336848, rs1948023197, rs1259209815, rs2497548650, rs1948156331, rs1948155529, rs2497567632, rs761539341, rs1394488629, rs1265062815, rs147332112, rs1591436678, rs2497579498, rs919578520, rs369033421, rs778247172, rs768926261, rs775614261, rs112363898, rs752598271, rs149868494, rs149979176, rs764844756, rs140348243, rs150312046, rs777894412, rs956132632, rs1265182259, rs111674223, rs775830012, rs1255734652, rs759761004, rs756573106, rs1277058252, rs1326784999, rs375535030, rs1448840191, rs1446239928, rs1948134379, rs200414589, rs755915465, rs2497564363, rs761183228, rs750329453, rs764865890, rs886047731, rs2497567496, rs2497579578, rs2497563693, rs1217200859, rs918145097, rs139327478, rs61065977, rs373045667, rs376627393, rs945490950, rs751139039, rs750839173, rs756210130, rs778693616, rs377730779, rs149497652, rs779514077, rs946169910, rs367988277, rs202087057, rs746641404, rs1208629284	RCV004656532 RCV005271184 RCV004656567 RCV004988606 RCV002432343 RCV002368543 RCV002368560 RCV003375347 RCV004039493 RCV002359223 RCV004671446 RCV002334941 RCV002334836 RCV005483039 RCV003303382 RCV002331372 RCV000619290 RCV000245761 RCV002441159 RCV003308002 RCV004982886 RCV006357316 RCV002346536 RCV002332953 RCV002451709 RCV002348905 RCV002349231 RCV002352979 RCV002375749 RCV002333689 RCV002320563 RCV002357656 RCV002340699 RCV002340715 RCV002351287 RCV002347600 RCV002358052 RCV002368929 RCV002335923 RCV002347165 RCV002342258 RCV002335782 RCV002352039 RCV002353621 RCV002369190 RCV002339988 RCV002351665 RCV002354124 RCV002361671 RCV002419168 RCV002362189 RCV002378641 RCV002401179 RCV002383548 RCV002412803 RCV002431067 RCV002428353 RCV002417321 RCV002428214 RCV002448278 RCV002446318 RCV002439928 RCV002435099 RCV002362871 RCV002336404 RCV002433739 RCV000619918 RCV000619132 RCV003298201 RCV000619368 RCV000619472 RCV003382158 RCV002354426 RCV002354430 RCV003380503 RCV005483357 RCV003308169 RCV003167622 RCV004065280 RCV005266469 RCV004984762 RCV003176551 RCV003176552 RCV003176553 RCV000250432 RCV003296701 RCV003296702 RCV003296703 RCV003296705 RCV003296706 RCV003381410 RCV003377765 RCV004661672 RCV004661723 RCV004984798 RCV003380546 RCV004021498 RCV004984799 RCV004524864 RCV004524865 RCV004524866 RCV004524867 RCV004524868 RCV004524869 RCV002338990 RCV000618216 RCV002331036 RCV002358740 RCV000618604 RCV000620719 RCV000620465 RCV000619578 RCV000620824 RCV004985020 RCV004026155 RCV002334320 RCV006342545 RCV005722201 RCV002319909 RCV002363274 RCV002354684 RCV002363474 RCV002346890 RCV004033446 RCV002418651
Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance	rs587782976	RCV000143950
Congenital long QT syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs45539032, rs150312046, rs45584835, rs181429015, rs886047718, rs45460396, rs375933863, rs534802709, rs7124127, rs191989669, rs5795119, rs559032799, rs1370870059, rs72546681, rs886047730, rs761183228, rs750329453, rs764865890, rs777218649, rs191321129, rs867824819, rs886047715, rs751855090, rs77548426, rs868344, rs114345754, rs886047719, rs190737124, rs565447765, rs886047721, rs7934994, rs117471801, rs886047725, rs5795117, rs28675746, rs561492722, rs565174265, rs1317544, rs1814964, rs886047727, rs886047729, rs886047732, rs886047734, rs569520041, rs145392070, rs3741315, rs369720674, rs76776242, rs570654511, rs886047720, rs769472607, rs200930587, rs886047723, rs1793158, rs747111771, rs541268607, rs113579428, rs886047733, rs865930367, rs149963368, rs757631990, rs886047716, rs886047717, rs45539741, rs45548134, rs886047722, rs886047724, rs117263855, rs549353088, rs182613927, rs66491110, rs886047728, rs539487703, rs67276909, rs886047731	RCV000296574 RCV000306117 RCV000339162 RCV000276730 RCV000328170 RCV000396847 RCV000366291 RCV000385609 RCV000353783 RCV000296315 RCV000402711 RCV000394592 RCV000272965 RCV000289635 RCV000346942 RCV000359792 RCV000353970 RCV000274637 RCV000338499 RCV000394449 RCV000364734 RCV000345163 RCV000331153 RCV000301089 RCV000355864 RCV000273089 RCV000283770 RCV000405435 RCV000313535 RCV000264651 RCV000267972 RCV000373124 RCV000290855 RCV000285012 RCV000274702 RCV000326851 RCV000285829 RCV000312613 RCV000306738 RCV000309880 RCV000295064 RCV000332818 RCV000359122 RCV000310416 RCV000360339 RCV000297352 RCV000385678 RCV000381881 RCV000284162 RCV000278047 RCV000312225 RCV000405074 RCV000357678 RCV000357150 RCV000348224 RCV000300464 RCV000269523 RCV000343058 RCV000351069 RCV000402914 RCV000334863 RCV000395262 RCV000287473 RCV000336416 RCV000371310 RCV000319377 RCV000287554 RCV000309951 RCV000318724 RCV000388204 RCV000338278 RCV000357584 RCV000379744 RCV000259514 RCV000282318 RCV000349017 RCV000366852
Gastric cancer	Uncertain significance	rs773494545	RCV005924011
Long QT syndrome	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	rs150312046, rs5795119, rs1370870059, rs886047715, rs886047721, rs5795117, rs886047729, rs569520041, rs886047723, rs747111771, rs886047731	RCV000395598 RCV000296935 RCV000320922 RCV000395266 RCV000322005 RCV000342323 RCV000352405 RCV000365049 RCV000395516 RCV000403340 RCV000319099
Long QT syndrome 10	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs750707860, rs1565455142, rs950065814, rs1948135887, rs147332112, rs746892195, rs1263610504, rs372596382, rs2135504024, rs2135505353, rs1277058252, rs1332884912, rs770446500, rs371609756, rs769406938, rs201454653, rs757744201, rs773921790, rs2135509745, rs2135505183, rs368141412, rs746647997, rs1322792651, rs1341627207, rs1235880227, rs2135503938, rs761173704, rs72544155, rs45539032, rs2135504067, rs773494545, rs762777113, rs1276703232, rs1418864816, rs747651845, rs1300967093, rs144127307, rs2135501534, rs755861941, rs745759292, rs1306208725, rs371872353, rs751802844, rs121434386, rs1948093663, rs774739091, rs149457565, rs1948023197, rs1948155529, rs919578520, rs369033421, rs766890974, rs778247172, rs768926261, rs112363898, rs752598271, rs149868494, rs149979176, rs758764353, rs140348243, rs150312046, rs777894412, rs2497564701, rs956132632, rs777615584, rs780599096, rs1265182259, rs111674223, rs1209663626, rs2497558598, rs149497652, rs775830012, rs1255734652, rs759761004, rs546190140, rs375535030, rs1448840191, rs1948134379, rs200414589, rs755915465, rs2497548845, rs2497567835, rs1565458814, rs2497548700, rs992079470, rs1591436750, rs2497564363, rs1001219641, rs755937444, rs769263983, rs143136332, rs750329453, rs1211586609, rs1555098880, rs2497549073, rs992756382, rs762630021, rs369073453, rs561492722, rs886047732, rs369720674, rs769472607, rs886047722, rs182613927, rs72546675, rs1047192753, rs758628437, rs771565684, rs61065977, rs772935082, rs1230446349, rs373045667, rs376627393, rs945490950, rs751139039, rs756210130, rs1555097541, rs757147726, rs761183228, rs377730779, rs779514077, rs946169910, rs377558816, rs377621220, rs367988277, rs202087057, rs111905160, rs772762943, rs755758222, rs1948156091, rs1208629284, rs1326784999, rs1447414158, rs1948133901, rs1948155711, rs1353607051, rs1246344139	RCV001343914 RCV001340455 RCV001344224 RCV001366344 RCV001368063 RCV001368540 RCV001432336 RCV001460823 RCV001465490 RCV001475802 RCV001481792 RCV001479187 RCV001515417 RCV002488356 RCV002495931 RCV001866170 RCV002073195 RCV005057548 RCV001837249 RCV002025984 RCV001934439 RCV001912656 RCV001963787 RCV001930364 RCV002031429 RCV001937228 RCV001929769 RCV000227384 RCV000476805 RCV001909052 RCV001884051 RCV002005940 RCV001960814 RCV002123225 RCV002118297 RCV002156647 RCV002192563 RCV002166867 RCV002094755 RCV002105667 RCV002193173 RCV002123581 RCV002209387 RCV000002563 RCV003603123 RCV003497954 RCV003096593 RCV003603124 RCV003097029 RCV003101003 RCV003497960 RCV003102767 RCV002471313 RCV001227229 RCV002485078 RCV001852054 RCV001078793 RCV002517647 RCV001079013 RCV001216410 RCV001852053 RCV000234662 RCV001082067 RCV001079556 RCV003098905 RCV002620788 RCV002571643 RCV002587162 RCV002608215 RCV002659486 RCV002676168 RCV002848041 RCV002975503 RCV002994304 RCV003004968 RCV001430864 RCV000227966 RCV005100982 RCV001854983 RCV003777145 RCV003777146 RCV005061346 RCV003498277 RCV003498407 RCV003499307 RCV003603424 RCV003604371 RCV003604441 RCV003604756 RCV003604780 RCV003602810 RCV003602891 RCV003603569 RCV003822918 RCV002494949 RCV003833321 RCV003844451 RCV003876092 RCV003874897 RCV003882091 RCV003881881 RCV002480102 RCV001850602 RCV002494947 RCV002487346 RCV002480101 RCV002494948 RCV000541553 RCV001453734 RCV000461488 RCV000467953 RCV001451522 RCV002528273 RCV002530944 RCV002062876 RCV001453259 RCV003497870 RCV003603068 RCV000809773 RCV003497871 RCV000646219 RCV000646220 RCV000678928 RCV000696092 RCV000790454 RCV000804035 RCV000821712 RCV000853595 RCV000865116 RCV002539966 RCV001501725 RCV001442608 RCV002549183 RCV001043337 RCV001060297 RCV001062361 RCV003770183 RCV001446927 RCV001219671 RCV001216611 RCV001213587 RCV001235232 RCV001234014 RCV001245483
Primary dilated cardiomyopathy	Uncertain significance	rs113659925	RCV000449616
SCN4B-related disorder	Conflicting classifications of pathogenicity; Likely benign	rs149868494, rs150312046, rs1047192753	RCV003937533 RCV003965229 RCV003959990
SUDDEN INFANT DEATH SYNDROME	Conflicting classifications of pathogenicity	rs140348243	RCV000171568

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Inhibit	37826914
Atrial Fibrillation	Associate	30821358
Bipolar Disorder	Associate	26554713
Brugada Syndrome	Associate	31627867
Epilepsy Temporal Lobe	Associate	32331418
Gallbladder Neoplasms	Associate	40527859
Infratentorial Neoplasms	Associate	33902636
Long QT Syndrome	Associate	17592081, 19029296
Long QT syndrome type 3	Associate	17592081
Neoplasms	Inhibit	32833340
Neuropathy Painful	Associate	32877464
Periodontitis	Associate	34101221
Prostatic Neoplasms	Associate	32833340
Tachycardia Ventricular	Associate	31020414
Thyroid Cancer Papillary	Inhibit	29723302