Abnormal heart morphology

0001627

Normal Case/Contol ^ⓘ

Sibling Case/Control ^ⓘ

Links

Sex Split

Interactive Plot

Statistics

Case	Control
141717	318477

Phenotype Definition

Any structural anomaly of the heart. [HPO:probinson]

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr23:64367019	rs7064929	-	G>A	6146	11420	244.9	3.381e-55	1.284
chr23:19215613	rs5955734	-	C>G	10059	19966	222.6	2.5e-50	1.205
chr23:106146349	rs5962774	MORC4	T>C	3963	7063	212.0	5.128e-48	1.337
chr23:19209307	rs960190	-	T>C	8472	17009	162.9	2.638e-37	1.188
chr23:19223321	rs5955542	-	C>T	14034	29332	161.9	4.421e-37	1.144
chr23:50659210	Affx-52372905	BMP15	C>CTCT	3830	7108	152.8	4.189e-35	1.283
chr23:63410110	rs61730681	AMER1	T>C	8011	16122	149.7	1.997e-34	1.185
chr23:63423664	rs5964740	AMER1	C>T	7993	16107	147.5	6.103e-34	1.184
chr23:148151708	Affx-34694529	-	A>C	3142	5709	146.6	9.782e-34	1.31
chr23:32716110	rs1800265	DMD	C>T	3041	5504	146.0	1.281e-33	1.315
chr23:19247670	rs7053743	-	A>G	9980	20500	145.7	1.531e-33	1.162
chr23:19270930	rs6633229	-	T>C	10184	20955	145.1	2.075e-33	1.16
chr23:106741866	rs35814730	-	A>G	4779	9213	138.3	6.331e-32	1.235
chr23:37890673	rs7881956	AF241726.2	C>T	8933	18253	138.0	7.394e-32	1.167
chr23:63412690	rs34677493	AMER1	A>C	3863	7295	133.6	6.68e-31	1.26
chr2:66725070	rs12995572	MEIS1	G>C	9272	17879	133.4	7.543e-31	1.162
chr23:102201216	rs725570	-	A>G	6335	12635	130.6	3.092e-30	1.195
chr15:45556163	rs8023604	SLC28A2	T>C	4584	8327	126.5	2.363e-29	1.231
chr23:110722596	rs73549358	-	C>T	4834	9421	125.8	3.381e-29	1.222
chr23:111065460	rs3027743	TRPC5	T>C	11150	23319	124.8	5.608e-29	1.141
chr4:81184341	rs16998073	-	A>T	84773	183016	131.9	1.584e-30	1.059
chr4:81164723	rs1458038	-	C>T	83348	180277	117.9	1.799e-27	1.056
chr4:81158221	rs17004846	-	A>G	102655	224619	77.53	1.309e-18	1.042
chr6:161010118	rs10455872	LPA	A>G	23450	49300	76.65	2.045e-18	1.075
chr12:111884608	rs3184504	SH2B3	C>T	138630	305363	74.25	6.869e-18	1.04
chr6:160997118	rs74617384	LPA	A>T	22822	48066	71.15	3.311e-17	1.073
chr2:26932031	rs2586886	KCNK3	T>C	112331	246566	70.39	4.869e-17	1.04
chr12:111910219	rs10774625	ATXN2	G>A	142160	313508	69.54	7.484e-17	1.038
chr12:112007756	rs653178	ATXN2	T>C	138484	305264	68.58	1.219e-16	1.038
chr10:63467553	rs4590817	CABCOCO1	G>C	46936	109834	64.6	9.158e-16	0.9526
chr15:91428521	rs11330240	FES	CT>C	94072	206077	63.01	2.053e-15	1.039
chr6:127147704	rs9375459	-	C>T	125086	275457	62.31	2.936e-15	1.037
chr25:2692710	rs2259750	-	A>G	53201	115401	60.64	6.842e-15	1.046
chr6:127181089	rs1361831	-	T>C	125478	276461	60.44	7.587e-15	1.036
chr20:57758720	rs16982520	ZNF831	A>G	35369	75847	60.43	7.623e-15	1.055
chr15:91429176	rs7497304	FES	G>T	93651	205260	60.13	8.883e-15	1.038
chr10:63524591	rs1530440	CABCOCO1	C>T	51660	120418	59.9	9.968e-15	0.9559
chr6:127177719	rs11754682	-	T>C	125447	276318	58.83	1.716e-14	1.036
chr1:10796866	rs880315	CASZ1	T>C	92643	202975	58.19	2.386e-14	1.038
chr5:157804457	rs9313772	-	C>T	97559	224368	57.07	4.198e-14	0.9647

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr5:33951693	rs16891982	SLC45A2	G>C	21898	5197	461.8	1.915e-102	1.405
chr15:48426484	rs1426654	SLC24A5	A>G	8958	1738	414.1	4.763e-92	1.703
chr5:33958959	rs28777	SLC45A2	A>C	18579	4395	394.0	1.126e-87	1.405
chr15:48392165	rs1834640	-	A>G	10318	2136	385.1	9.789e-86	1.597
chr8:145639681	rs1871534	SLC39A4	G>C	6269	1130	354.8	3.787e-79	1.829
chr1:159174683	rs2814778	ACKR1	T>C	6698	1282	320.3	1.259e-71	1.721
chr19:42393286	rs717225	ARHGEF1	A>G	7482	1509	303.3	6.295e-68	1.634
chr16:28995057	rs11859822	SPNS1	T>C	9786	2137	295.7	2.786e-66	1.511
chr2:66725070	rs12995572	MEIS1	G>C	9272	2002	293.2	9.768e-66	1.528
chr6:3185712	rs7754077	-	C>T	6380	1247	285.9	3.841e-64	1.685
chr23:64367019	rs7064929	-	G>A	6146	1362	285.1	5.833e-64	1.658
chr7:38331504	rs1860521	-	C>T	6112	1180	284.5	7.905e-64	1.705
chr23:106146349	rs5962774	MORC4	T>C	3963	751	281.7	3.277e-63	1.934
chr23:71628912	rs3012642	AL133500.1	A>G	7440	1752	279.3	1.089e-62	1.562
chr2:171380643	rs34020565	MYO3B	T>G	8365	1783	278.0	2.1e-62	1.546
chr23:128718936	rs2362937	OCRL	T>C	6591	1504	277.4	2.711e-62	1.611
chr17:29290106	rs55861543	-	C>T	7052	1435	277.0	3.413e-62	1.618
chr17:29298304	rs7225888	RNF135	C>G	6776	1364	276.1	5.394e-62	1.636
chr23:19215613	rs5955734	-	C>G	10059	2558	274.5	1.159e-61	1.45
chr19:42392441	rs16975619	ARHGEF1	T>C	6815	1379	272.9	2.676e-61	1.627
chr4:81184341	rs16998073	-	A>T	84773	26952	74.06	7.594e-18	1.074
chr4:81164723	rs1458038	-	C>T	83348	26529	69.27	8.597e-17	1.072
chr15:91441673	rs2677738	-	G>A	98167	34000	48.1	4.051e-12	0.947
chr25:2692710	rs2259750	-	A>G	53201	16883	46.58	8.775e-12	1.069
chr15:91429176	rs7497304	FES	G>T	93651	30186	46.14	1.1e-11	1.056
chr15:91428521	rs11330240	FES	CT>C	94072	30327	45.42	1.587e-11	1.056
chr1:10796866	rs880315	CASZ1	T>C	92643	29949	43.85	3.554e-11	1.056
chr20:62712053	rs8121509	OPRL1	T>C	126888	43600	43.49	4.266e-11	0.9515
chr4:81158221	rs17004846	-	A>G	102655	33212	41.89	9.664e-11	1.052
chr1:10789697	rs284279	CASZ1	C>T	104405	33804	41.47	1.196e-10	1.052
chr25:155104608	rs5940618	-	G>A	58506	18672	41.24	1.347e-10	1.062
chr1:10799577	rs12046278	CASZ1	T>C	99168	32080	40.3	2.18e-10	1.052
chr12:50594947	rs4459386	LIMA1	G>A	120024	39022	39.55	3.198e-10	1.049
chr19:11526765	rs167479	RGL3	G>T	132015	45262	39.48	3.315e-10	0.9538
chr12:50537815	rs7302981	CERS5	G>A	106441	34510	39.36	3.527e-10	1.05
chr17:47047868	rs3895874	-	A>G	121668	41743	38.62	5.144e-10	0.9539
chr12:111884608	rs3184504	SH2B3	C>T	138630	45255	38.14	6.594e-10	1.048
chr25:154986418	rs142918084	-	C>G	9019	3407	37.49	9.181e-10	0.882
chr15:91404705	rs4932370	-	G>A	96643	31287	37.11	1.114e-09	1.05
chr12:111910219	rs10774625	ATXN2	G>A	142160	46456	37.07	1.139e-09	1.047

Associated Diseases ^ⓘ

ID	Name	Top Correlation
ICD: I10	Essential (primary) hypertension	13/20
ICD: I319	Disease of pericardium, unspecified	1/20
ICD: I517	Cardiomegaly	4/20
ICD: M5490	Dorsalgia, unspecified (Multiple sites in spine)	1/20
ICD: M5499	Dorsalgia, unspecified (Site unspecified)	2/20
ICD: O800	Spontaneous vertex delivery	2/20

ID	Name	Top Correlation
ICD-10: A410	Septicaemia due to Staphylococcus aureus	0/20
ICD-10: A411	Septicaemia due to other specified staphylococcus	0/20
ICD-10: A415	Septicaemia due to other Gram-negative organisms	0/20
ICD-10: A418	Other specified septicaemia	0/20
ICD-10: A490	Staphylococcal infection, unspecified	0/20
ICD-10: B348	Other viral infections of unspecified site	0/20
ICD-10: B349	Viral infection, unspecified	0/20
ICD-10: C19	Malignant neoplasm of rectosigmoid junction	0/20
ICD-10: C349	Bronchus or lung, unspecified	0/20
ICD-10: C450	Mesothelioma of pleura	0/20
ICD-10: C459	Mesothelioma, unspecified	0/20
ICD-10: E833	Disorders of phosphorus metabolism	0/20
ICD-10: F430	Acute stress reaction	0/20
ICD-10: I050	Mitral stenosis	0/20
ICD-10: I059	Mitral valve disease, unspecified	0/20
ICD-10: I071	Tricuspid insufficiency	0/20
ICD-10: I080	Disorders of both mitral and aortic valves	0/20
ICD-10: I081	Disorders of both mitral and tricuspid valves	0/20
ICD-10: I082	Disorders of both aortic and tricuspid valves	0/20
ICD-10: I083	Combined disorders of mitral, aortic and tricuspid valves	0/20
ICD-10: I119	Hypertensive heart disease without (congestive) heart failure	0/20
ICD-10: I151	Hypertension secondary to other renal disorders	0/20
ICD-10: I200	Unstable angina	0/20
ICD-10: I208	Other forms of angina pectoris	0/20
ICD-10: I214	Acute subendocardial myocardial infarction	0/20
ICD-10: I219	Acute myocardial infarction, unspecified	0/20
ICD-10: I229	Subsequent myocardial infarction of unspecified site	0/20
ICD-10: I240	Coronary thrombosis not resulting in myocardial infarction	0/20
ICD-10: I249	Acute ischaemic heart disease, unspecified	0/20
ICD-10: I251	Atherosclerotic heart disease	0/20
ICD-10: I255	Ischaemic cardiomyopathy	0/20
ICD-10: I259	Chronic ischaemic heart disease, unspecified	0/20
ICD-10: I269	Pulmonary embolism without mention of acute cor pulmonale	0/20
ICD-10: I279	Pulmonary heart disease, unspecified	0/20
ICD-10: I309	Acute pericarditis, unspecified	0/20
ICD-10: I313	Pericardial effusion (noninflammatory)	0/20
ICD-10: I330	Acute and subacute infective endocarditis	0/20
ICD-10: I340	Mitral (valve) insufficiency	0/20
ICD-10: I341	Mitral (valve) prolapse	0/20
ICD-10: I350	Aortic (valve) stenosis	0/20
ICD-10: I351	Aortic (valve) insufficiency	0/20
ICD-10: I352	Aortic (valve) stenosis with insufficiency	0/20
ICD-10: I358	Other aortic valve disorders	0/20
ICD-10: I359	Aortic valve disorder, unspecified	0/20
ICD-10: I361	Nonrheumatic tricuspid (valve) insufficiency	0/20
ICD-10: I371	Pulmonary valve insufficiency	0/20
ICD-10: I38	Endocarditis, valve unspecified	0/20
ICD-10: I420	Dilated cardiomyopathy	0/20
ICD-10: I421	Obstructive hypertrophic cardiomyopathy	0/20
ICD-10: I422	Other hypertrophic cardiomyopathy	0/20
ICD-10: I428	Other cardiomyopathies	0/20
ICD-10: I429	Cardiomyopathy, unspecified	0/20
ICD-10: I455	Other specified heart block	0/20
ICD-10: I456	Preexcitation syndrome	0/20
ICD-10: I460	Cardiac arrest with successful resuscitation	0/20
ICD-10: I500	Congestive heart failure	0/20
ICD-10: I501	Left ventricular failure	0/20
ICD-10: I509	Heart failure, unspecified	0/20
ICD-10: I514	Myocarditis, unspecified	0/20
ICD-10: I516	Cardiovascular disease, unspecified	0/20
ICD-10: I518	Other ill-defined heart diseases	0/20
ICD-10: I519	Heart disease, unspecified	0/20
ICD-10: I7000	Atherosclerosis of aorta (without gangrene)	0/20
ICD-10: I7020	Atherosclerosis of arteries of extremities (without gangrene)	0/20
ICD-10: I728	Aneurysm of other specified arteries	0/20
ICD-10: I776	Arteritis, unspecified	0/20
ICD-10: I841	Internal haemorrhoids with other complications	0/20
ICD-10: I844	External haemorrhoids with other complications	0/20
ICD-10: I848	Unspecified haemorrhoids with other complications	0/20
ICD-10: J324	Chronic pansinusitis	0/20
ICD-10: J920	Pleural plaque with presence of asbestos	0/20
ICD-10: J929	Pleural plaque without asbestos	0/20
ICD-10: M353	Polymyalgia rheumatica	0/20
ICD-10: M548	Other dorsalgia	0/20
ICD-10: M5494	Dorsalgia, unspecified (Thoracic region)	0/20
ICD-10: M5496	Dorsalgia, unspecified (Lumbar region)	0/20
ICD-10: M790	Rheumatism, unspecified	0/20
ICD-10: O351	Maternal care for (suspected) chromosomal abnormality in foetus	0/20
ICD-10: Q210	Ventricular septal defect	0/20
ICD-10: Q211	Atrial septal defect	0/20
ICD-10: Q231	Congenital insufficiency of aortic valve	0/20
ICD-10: Q600	Renal agenesis, unilateral	0/20
ICD-10: R010	Benign and innocent cardiac murmurs	0/20
ICD-10: R011	Cardiac murmur, unspecified	0/20
ICD-10: R030	Elevated blood-pressure reading, without diagnosis of hypertension	0/20
ICD-10: R068	Other and unspecified abnormalities of breathing	0/20
ICD-10: R072	Precordial pain	0/20
ICD-10: R091	Pleurisy	0/20
ICD-10: R34	Anuria and oliguria	0/20
ICD-10: R451	Restlessness and agitation	0/20
ICD-10: R55	Syncope and collapse	0/20
ICD-10: R570	Cardiogenic shock	0/20
ICD-10: R931	Abnormal findings on diagnostic imaging of heart and coronary circulation	0/20
ICD-10: T820	Mechanical complication of heart valve prosthesis	0/20
ICD-10: Y838	Other surgical procedures	0/20

Abnormal heart morphology

0001627

Normal Case/Contol ⓘ

Sibling Case/Control ⓘ

Links

Statistics

Phenotype Definition

Top SNP Information Show Normal Table Show Sibling SNP

Associated Diseases ⓘ Shared SNP diseases No shared SNP diseases

Normal Case/Contol ^ⓘ

Sibling Case/Control ^ⓘ

Top SNP Information

Associated Diseases ^ⓘ