Intestinal perforation

0031368

Female ^ⓘ

Male ^ⓘ

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Statistics

Female Case	Female Control	% Female
8400	241457	43%

Male Case	Male Control	% Male
11103	199234	57%

Phenotype Definition

A hole (perforation) in the wall of the intestine. []

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr18:46453463	rs4939827	SMAD7	T>C	7982	249968	71.55	2.702e-17	0.8775
chr11:111171709	rs3802842	COLCA2	A>C	5754	154190	60.3	8.159e-15	1.136
chr11:111165009	rs7103178	-	T>C	5774	154807	59.03	1.553e-14	1.134
chr11:111125512	rs2001754	C11orf53	A>G	6269	169203	58.68	1.854e-14	1.131
chr15:48426484	rs1426654	SLC24A5	A>G	369	15675	52.48	4.34e-13	0.6816
chr20:60968596	rs1570027	CABLES2	A>G	3565	115406	46.83	7.758e-12	0.8777
chr15:48392165	rs1834640	-	A>G	440	17717	46.13	1.108e-11	0.7185
chr11:111213944	rs12365324	-	G>A	7296	200809	42.89	5.777e-11	1.108
chr17:58508582	rs8071181	C17orf64	G>A	183	8651	42.89	5.8e-11	0.6145
chr2:163216109	rs3213843	GCA	C>T	137	6892	41.17	1.395e-10	0.5776
chr23:64367019	rs7064929	-	G>A	298	12551	40.26	2.227e-10	0.6887
chr15:89169858	rs8027765	AEN	G>A	1034	36582	39.54	3.209e-10	0.8154
chr9:137925543	rs7027926	-	G>A	204	9228	39.37	3.505e-10	0.642
chr17:29290106	rs55861543	-	C>T	267	11402	38.87	4.535e-10	0.6794
chr9:99707574	rs141846653	-	A>G	393	15847	38.44	5.657e-10	0.7267
chr16:28995057	rs11859822	SPNS1	T>C	398	15844	38.32	6e-10	0.7287
chr5:33951693	rs16891982	SLC45A2	G>C	996	35211	37.77	7.963e-10	0.8163
chr14:105961529	rs4983425	TEDC1	A>G	799	28909	37.65	8.467e-10	0.7987
chr11:111202486	rs1893990	-	C>T	8327	231514	37.64	8.505e-10	1.099
chr1:159174683	rs2814778	ACKR1	T>C	252	10785	37.02	1.168e-09	0.6783
chr18:46453463	rs4939827	SMAD7	T>C	7523	230505	56.46	5.724e-14	0.888
chr11:111165009	rs7103178	-	T>C	5533	146174	53.9	2.108e-13	1.131
chr11:111171709	rs3802842	COLCA2	A>C	5515	145836	53.18	3.048e-13	1.13
chr11:111125512	rs2001754	C11orf53	A>G	6097	163255	45.73	1.36e-11	1.117
chr20:60968596	rs1570027	CABLES2	A>G	3427	108900	43.43	4.383e-11	0.8797
chr10:8741986	rs35062044	-	T>G	4547	143378	34.93	3.421e-09	0.8985
chr15:33022090	rs35330276	GREM1	G>A	3427	90025	33.2	8.331e-09	1.119
chr15:32994756	rs4779584	-	C>T	3478	91445	32.56	1.155e-08	1.117
chr11:111213944	rs12365324	-	G>A	7165	195684	31.07	2.489e-08	1.093
chr11:111202486	rs1893990	-	C>T	8117	223101	30.0	4.313e-08	1.09
chr17:81051887	rs7223467	METRNL	G>T	5491	167723	29.56	5.429e-08	0.913
chr9:139019262	rs2839876	-	G>T	5078	137110	29.47	5.665e-08	1.098
chr10:8701219	rs10795668	-	G>A	5141	157335	29.3	6.202e-08	0.912
chr20:60920700	rs6143035	LAMA5	T>C	3830	118919	28.87	7.734e-08	0.9044
chr3:40915239	rs35470271	-	A>G	2694	70323	28.17	1.11e-07	1.12
chr20:15028413	rs73093967	MACROD2	T>C	1174	29009	27.92	1.264e-07	1.177
chr17:812750	rs2955621	NXN	G>A	3171	83869	27.22	1.82e-07	1.111
chr20:60899182	rs11698080	LAMA5	C>T	3395	105646	27.09	1.942e-07	0.9029
chr8:117640315	rs11986063	-	C>T	1655	42011	26.72	2.354e-07	1.146
chr5:40265904	rs1348612	-	A>G	5141	138909	26.18	3.111e-07	1.091

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr18:46453463	rs4939827	SMAD7	T>C	10438	207715	128.5	8.555e-30	0.8572
chr5:33951693	rs16891982	SLC45A2	G>C	1198	29653	111.4	4.863e-26	0.7274
chr5:33958959	rs28777	SLC45A2	A>C	1000	25152	102.0	5.615e-24	0.7178
chr1:159174683	rs2814778	ACKR1	T>C	230	8110	100.5	1.173e-23	0.5159
chr15:48426484	rs1426654	SLC24A5	A>G	365	11117	95.07	1.834e-22	0.5962
chr8:145639681	rs1871534	SLC39A4	G>C	228	7497	78.83	6.778e-19	0.5536
chr15:48392165	rs1834640	-	A>G	471	12996	78.78	6.945e-19	0.6586
chr11:111125512	rs2001754	C11orf53	A>G	8209	138967	78.05	1.006e-18	1.133
chr11:111171709	rs3802842	COLCA2	A>C	7502	126251	76.03	2.79e-18	1.134
chr19:42393286	rs717225	ARHGEF1	A>G	307	9217	74.99	4.72e-18	0.6061
chr5:100978551	rs6895527	-	A>G	347	10104	74.13	7.303e-18	0.6253
chr2:66725070	rs12995572	MEIS1	G>C	415	11573	73.09	1.241e-17	0.6519
chr11:111165009	rs7103178	-	T>C	7513	126789	71.54	2.722e-17	1.13
chr4:110940045	rs4698804	-	T>C	243	7622	70.45	4.728e-17	0.5809
chr1:186914102	rs7526761	PLA2G4A	T>C	161	5665	69.47	7.755e-17	0.5185
chr8:128413305	rs6983267	POU5F1B	G>T	10332	201475	68.44	1.31e-16	0.8937
chr2:171380643	rs34020565	MYO3B	T>G	387	10783	67.47	2.138e-16	0.6535
chr1:173579034	rs12065033	AL139142.2	C>T	190	6297	67.3	2.333e-16	0.5501
chr5:100990247	rs6883027	-	G>A	354	10043	67.28	2.353e-16	0.6418
chr5:33951116	rs35397	SLC45A2	T>G	1793	39636	66.81	2.988e-16	0.8144
chr18:46453463	rs4939827	SMAD7	T>C	9871	190779	101.2	8.111e-24	0.8696
chr8:128413305	rs6983267	POU5F1B	G>T	10003	192041	84.08	4.759e-20	0.8807
chr8:128407443	rs10505477	POU5F1B	A>G	10227	195565	77.88	1.094e-18	0.8851
chr11:111171709	rs3802842	COLCA2	A>C	7226	119566	63.69	1.457e-15	1.125
chr11:111165009	rs7103178	-	T>C	7229	119857	60.71	6.614e-15	1.122
chr18:46453754	rs35352860	SMAD7	C>T	5459	106955	55.13	1.131e-13	0.8881
chr11:111125512	rs2001754	C11orf53	A>G	7988	133840	55.11	1.138e-13	1.113
chr8:128428638	Affx-31548678	POU5F1B	G>A	8518	162555	51.68	6.548e-13	0.9028
chr8:128424792	rs7014346	POU5F1B	G>A	8776	148410	46.38	9.716e-12	1.101
chr8:117630683	rs16892766	-	A>C	2026	31360	45.25	1.735e-11	1.175
chr8:117640315	rs11986063	-	C>T	2192	34528	38.81	4.683e-10	1.155
chr11:74414919	rs11607100	CHRDL2	C>T	745	16743	37.95	7.258e-10	0.7912
chr8:128428795	Affx-31548681	POU5F1B	A>G	11444	197159	36.79	1.318e-09	1.088
chr18:46459032	rs4464148	SMAD7	T>C	7071	119662	33.2	8.323e-09	1.089
chr20:60968596	rs1570027	CABLES2	A>G	4686	90743	33.03	9.077e-09	0.9076
chr15:33022090	rs35330276	GREM1	G>A	4424	73346	31.96	1.576e-08	1.103
chr10:8701219	rs10795668	-	G>A	6849	130149	31.68	1.819e-08	0.9195
chr11:74413843	rs34695217	CHRDL2	T>C	774	16943	30.6	3.174e-08	0.8133
chr20:60920700	rs6143035	LAMA5	T>C	5141	98685	29.35	6.034e-08	0.9153
chr18:46400784	rs75518588	-	G>A	4927	82417	28.69	8.501e-08	1.093

Associated Diseases ^ⓘ

ID	Name	Top Correlation
ICD: C187	Sigmoid colon	2/20
ICD: D123	Transverse colon	4/20
ICD: D124	Descending colon	4/20
ICD: D125	Sigmoid colon	13/20
ICD: D126	Colon, unspecified	7/20
ICD: D128	Rectum	9/20

ID	Name	Top Correlation
ICD-10: C184	Transverse colon	0/20
ICD-10: C186	Descending colon	0/20
ICD-10: D127	Rectosigmoid junction	0/20
ICD-10: D374	Colon	0/20
ICD-10: D375	Rectum	0/20
ICD-10: K353	Acute appendicitis with localized peritonitis	0/20
ICD-10: K559	Vascular disorder of intestine, unspecified	0/20
ICD-10: K650	Acute peritonitis	0/20
ICD-10: K658	Other peritonitis	0/20
ICD-10: K659	Peritonitis, unspecified	0/20

Intestinal perforation

0031368

Female ⓘ

Male ⓘ

Links

Statistics

Phenotype Definition

Top SNP Information Show Female Show Male

Associated Diseases ⓘ Shared SNP diseases No shared SNP diseases

Female ^ⓘ

Male ^ⓘ

Top SNP Information

Associated Diseases ^ⓘ