Cardiac conduction abnormality

0031546

Female ^ⓘ

Male ^ⓘ

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Statistics

Female Case	Female Control	% Female
9842	240015	36%

Male Case	Male Control	% Male
17665	192672	64%

Phenotype Definition

Any anomaly of the progression of electrical impulses through the heart. []

Phenotype Comment

The conduction system of the heart initiates and coordinates the electric signal that causes the rhythmic and synchronized contractions of the atria and ventricles. In higher vertebrates, this system comprises the sinuatrial (SAN) and atrioventricular nodes (AVN) and the wiring of the ventricles. The latter comprises the atrioventricular bundle (AVB), the left and right bundle branches (BBs), and the peripheral ventricular conduction system (PVCS).

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr6:161010118	rs10455872	LPA	A>G	1810	38211	33.65	6.609e-09	1.157
chr6:160997118	rs74617384	LPA	A>T	1749	37244	29.16	6.652e-08	1.148
chr6:16351420	rs116325143	ATXN1	T>C	1192	33272	25.95	3.502e-07	0.8568
chr3:142595792	rs76857748	PCOLCE2	C>T	1237	25936	24.82	6.299e-07	1.161
chr6:42577712	rs12200153	UBR2	A>G	4644	104950	24.42	7.729e-07	1.088
chr1:227166817	rs75836830	COQ8A	G>A	1019	21104	24.09	9.191e-07	1.175
chr9:12909292	rs7865258	-	T>G	4131	106763	23.36	1.341e-06	0.918
chr9:22125347	rs1333048	-	A>C	10783	251688	23.22	1.447e-06	1.07
chr9:22125503	rs1333049	-	G>C	10403	242536	22.87	1.729e-06	1.07
chr9:22088260	rs10757272	-	C>T	10506	245265	22.14	2.541e-06	1.069
chr4:30236876	rs10461106	-	G>A	536	16247	21.91	2.863e-06	0.8121
chr10:16645177	rs7070681	RSU1	A>G	4417	100057	21.47	3.602e-06	1.083
chr9:22124477	rs10757278	-	A>G	10383	242279	21.35	3.816e-06	1.067
chr2:136324225	rs4954265	-	A>G	1691	37569	21.33	3.873e-06	1.128
chr17:12614901	rs2176665	MYOCD	G>A	2970	66137	21.23	4.065e-06	1.098
chr13:84697047	rs4539486	-	G>A	7199	166060	21.17	4.193e-06	1.071
chr23:30573621	rs12859457	-	A>G	1559	33535	21.17	4.207e-06	1.132
chr22:34235677	rs5754714	LARGE1	T>C	4157	107005	21.03	4.517e-06	0.9222
chr9:22096055	rs10757274	-	A>G	10513	245738	21.0	4.602e-06	1.067
chr18:74453939	rs35943772	-	C>T	8983	208833	20.99	4.616e-06	1.067
chr6:161010118	rs10455872	LPA	A>G	1786	37746	37.93	7.338e-10	1.169
chr6:160997118	rs74617384	LPA	A>T	1725	36783	33.26	8.076e-09	1.16
chr6:16351420	rs116325143	ATXN1	T>C	1151	32298	23.52	1.239e-06	0.8609
chr9:22125503	rs1333049	-	G>C	9832	231363	22.93	1.678e-06	1.072
chr15:67786314	rs78769753	IQCH	G>A	753	15447	22.1	2.584e-06	1.196
chr9:22088260	rs10757272	-	C>T	9897	233183	22.04	2.668e-06	1.071
chr9:22125347	rs1333048	-	A>C	10155	239533	21.58	3.399e-06	1.07
chr9:22124477	rs10757278	-	A>G	9827	231434	21.5	3.54e-06	1.07
chr23:30573621	rs12859457	-	A>G	1407	30354	21.5	3.536e-06	1.14
chr19:44194781	rs346043	-	T>C	4945	127714	21.24	4.044e-06	0.9257
chr3:142595792	rs76857748	PCOLCE2	C>T	1127	24013	20.69	5.403e-06	1.153
chr9:22096055	rs10757274	-	A>G	9948	234767	20.67	5.468e-06	1.068
chr14:38326888	rs17768841	TTC6	A>G	425	8303	20.28	6.698e-06	1.253
chr9:22098574	rs4977574	-	A>G	9918	234023	20.15	7.166e-06	1.068
chr18:74446159	rs12963849	-	C>T	5027	115662	19.96	7.891e-06	1.078
chr14:62724837	rs12588013	-	G>T	7735	181134	19.94	8.006e-06	1.069
chr3:21161099	rs13081730	-	A>G	8322	195298	19.8	8.611e-06	1.068
chr17:3185908	rs116865039	OR3A2	G>C	507	15063	19.71	8.991e-06	0.8164
chr22:34235677	rs5754714	LARGE1	T>C	3926	102053	19.64	9.346e-06	0.9226
chr5:31892621	rs1107296	PDZD2	T>C	2425	54308	19.55	9.788e-06	1.103

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr1:159174683	rs2814778	ACKR1	T>C	420	7920	124.0	8.511e-29	0.5748
chr8:145639681	rs1871534	SLC39A4	G>C	382	7343	120.9	4.028e-28	0.5642
chr9:22124477	rs10757278	-	A>G	18864	194574	110.2	9.069e-26	1.12
chr15:48426484	rs1426654	SLC24A5	A>G	655	10827	110.1	9.188e-26	0.6551
chr9:22098574	rs4977574	-	A>G	19011	196331	109.7	1.122e-25	1.12
chr6:160997118	rs74617384	LPA	A>T	3257	29577	108.3	2.257e-25	1.222
chr9:22096055	rs10757274	-	A>G	19093	197208	107.1	4.295e-25	1.118
chr9:22125503	rs1333049	-	G>C	18860	194639	107.0	4.392e-25	1.118
chr9:22088260	rs10757272	-	C>T	19063	196914	106.1	7.04e-25	1.118
chr6:161010118	rs10455872	LPA	A>G	3325	30353	105.6	8.798e-25	1.217
chr17:58508582	rs8071181	C17orf64	G>A	328	6255	100.9	9.857e-24	0.5689
chr9:22125347	rs1333048	-	A>C	19462	201724	99.25	2.221e-23	1.114
chr5:147666044	rs7707813	-	T>C	419	7435	96.55	8.7e-23	0.6118
chr3:188327555	rs7645635	LPP	T>C	307	5883	95.81	1.262e-22	0.5667
chr5:147671850	rs7724380	-	G>A	465	8020	94.84	2.069e-22	0.6291
chr2:226686177	rs7581591	-	T>C	464	7977	93.39	4.301e-22	0.631
chr6:136480972	rs9483910	PDE7B	C>T	522	8707	91.3	1.234e-21	0.6502
chr6:137344363	rs1744080	IL20RA	G>A	383	6823	89.64	2.852e-21	0.6097
chr1:25555672	rs10903036	SYF2	C>T	287	5492	88.97	3.999e-21	0.5678
chr1:207782889	rs17047661	CR1	A>G	310	5794	87.87	6.993e-21	0.5815
chr6:160997118	rs74617384	LPA	A>T	3209	29171	103.4	2.776e-24	1.219
chr6:161010118	rs10455872	LPA	A>G	3277	29941	101.1	8.575e-24	1.214
chr9:22125503	rs1333049	-	G>C	17846	184877	82.08	1.309e-19	1.106
chr9:22124477	rs10757278	-	A>G	17841	185004	80.23	3.329e-19	1.105
chr9:22096055	rs10757274	-	A>G	18053	187385	78.44	8.226e-19	1.104
chr9:22098574	rs4977574	-	A>G	17984	186801	78.18	9.423e-19	1.103
chr9:22088260	rs10757272	-	C>T	17940	186186	77.55	1.295e-18	1.103
chr9:22125347	rs1333048	-	A>C	18377	191076	76.81	1.886e-18	1.102
chr9:22081850	rs6475606	-	C>T	17814	185085	74.81	5.184e-18	1.101
chr9:22115959	rs2383207	-	G>A	16374	187792	74.15	7.223e-18	0.9084
chr6:160922870	rs117733303	-	A>G	842	6897	62.95	2.118e-15	1.339
chr6:160961137	rs3798220	LPA	T>C	830	6808	61.64	4.128e-15	1.338
chr6:160848743	rs9457925	SLC22A3	G>A	841	6925	60.81	6.293e-15	1.333
chr9:22083404	rs1333040	-	T>C	13941	160019	57.57	3.257e-14	0.9173
chr6:160687412	rs10080815	SLC22A2	T>G	870	7405	49.17	2.348e-12	1.289
chr6:12903957	rs9349379	PHACTR1	A>G	14924	155467	47.97	4.322e-12	1.081
chr1:222826481	rs2291832	MIA3	A>G	9485	109846	43.77	3.697e-11	0.9204
chr1:222823742	Affx-52323048	MIA3	TG>T	8606	100246	43.02	5.416e-11	0.9174
chr1:222823529	rs17465637	MIA3	C>A	9501	109847	42.22	8.15e-11	0.9219
chr9:22068652	rs4977756	-	A>G	13637	155475	41.8	1.013e-10	0.9289

Associated Diseases ^ⓘ

ID	Name	Top Correlation
ICD: I252	Old myocardial infarction	15/20
ICD: I258	Other forms of chronic ischaemic heart disease	15/20
ICD: I447	Left bundle-branch block, unspecified	3/20

ID	Name	Top Correlation
ICD-10: I249	Acute ischaemic heart disease, unspecified	0/20
ICD-10: I440	Atrioventricular block, first degree	0/20
ICD-10: I441	Atrioventricular block, second degree	0/20
ICD-10: I442	Atrioventricular block, complete	0/20
ICD-10: I443	Other and unspecified atrioventricular block	0/20
ICD-10: I446	Other and unspecified fascicular block	0/20
ICD-10: I451	Other and unspecified right bundle-branch block	0/20
ICD-10: I452	Bifascicular block	0/20
ICD-10: I453	Trifascicular block	0/20
ICD-10: I455	Other specified heart block	0/20
ICD-10: I458	Other specified conduction disorders	0/20
ICD-10: I459	Conduction disorder, unspecified	0/20
ICD-10: I490	Ventricular fibrillation and flutter	0/20
ICD-10: I494	Other and unspecified premature depolarisation	0/20
ICD-10: I495	Sick sinus syndrome	0/20
ICD-10: O622	Other uterine inertia	0/20
ICD-10: R42	Dizziness and giddiness	0/20