Hematochezia

0002573

Normal Case/Contol ^ⓘ

Sibling Case/Control ^ⓘ

Links

Sex Split

Interactive Plot

Statistics

Case	Control
76099	384095

Phenotype Definition

The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus. [DDD:hfirth]

Phenotype Comment

Bright red blood in stool, most frequentoly caused by hemorrhoids or diverticulosis.

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr15:48426484	rs1426654	SLC24A5	A>G	3521	24005	264.9	1.504e-59	0.7437
chr5:33951693	rs16891982	SLC45A2	G>C	9517	57541	249.0	4.365e-56	0.8353
chr15:48392165	rs1834640	-	A>G	4173	27451	240.2	3.522e-54	0.7708
chr5:33958959	rs28777	SLC45A2	A>C	8023	48969	231.5	2.821e-52	0.8287
chr1:159174683	rs2814778	ACKR1	T>C	2437	16940	207.3	5.458e-47	0.7311
chr9:129557967	rs7863211	-	G>A	2458	16744	182.0	1.767e-41	0.7462
chr17:58786625	rs2643103	BCAS3	G>A	2473	16785	178.5	1.027e-40	0.7489
chr6:3185712	rs7754077	-	C>T	2400	16272	171.8	2.963e-39	0.7498
chr9:117110112	Affx-52344420	AKNA	T>TG	1812	12767	167.9	2.091e-38	0.7219
chr8:145639681	rs1871534	SLC39A4	G>C	2339	15806	163.6	1.858e-37	0.7523
chr15:45491394	rs1648299	SHF	T>C	2199	14960	160.6	8.199e-37	0.7478
chr2:66725070	rs12995572	MEIS1	G>C	3685	23466	159.1	1.796e-36	0.7979
chr4:110940045	rs4698804	-	T>C	2368	15896	157.3	4.399e-36	0.7576
chr1:173579034	rs12065033	AL139142.2	C>T	1941	13400	157.1	4.887e-36	0.737
chr17:58508582	rs8071181	C17orf64	G>A	1953	13464	156.2	7.789e-36	0.7383
chr1:207782889	rs17047661	CR1	A>G	1796	12523	155.3	1.198e-35	0.7298
chr5:54280007	rs1508890	ESM1	C>A	2400	16016	152.6	4.639e-35	0.762
chr2:226686177	rs7581591	-	T>C	2611	17224	151.5	7.949e-35	0.771
chr10:31515132	rs2484990	-	C>T	3100	19992	149.4	2.394e-34	0.7884
chr10:31512098	rs2484992	-	C>T	3075	19834	148.4	3.792e-34	0.7882
chr9:136149229	rs505922	ABO	T>C	46801	245092	78.14	9.604e-19	0.9477
chr9:136137065	rs687621	ABO	A>G	46972	245775	74.79	5.245e-18	0.9488
chr9:136143442	rs612169	ABO	A>G	47047	246096	73.87	8.332e-18	0.9492
chr9:136139265	rs657152	ABO	C>A	50176	261795	71.19	3.239e-17	0.9509
chr9:136142203	rs514659	ABO	A>C	45469	237665	70.64	4.286e-17	0.9496
chr9:136132908	rs8176719	ABO	T>TC	50188	262095	69.79	6.593e-17	0.9513
chr9:136142355	rs643434	ABO	G>A	50354	262670	69.55	7.459e-17	0.9515
chr9:136155000	rs635634	-	C>T	26673	140289	46.49	9.221e-12	0.951
chr9:136149399	rs507666	ABO	G>A	26864	141260	46.24	1.045e-11	0.9513
chr6:98364895	rs9482094	-	G>A	55123	285142	45.45	1.567e-11	0.9614
chr9:136153875	rs651007	-	C>T	30547	159859	41.79	1.016e-10	0.9558
chr9:136154867	rs495828	-	G>T	30521	159627	40.96	1.553e-10	0.9562
chr9:136154168	rs579459	-	T>C	30568	159865	40.65	1.819e-10	0.9564
chr6:98545611	rs62422661	-	G>T	58608	302102	36.9	1.241e-09	0.9656
chr6:98331937	rs9401305	-	A>C	69461	357049	36.75	1.341e-09	0.9664
chr9:136147702	rs581107	ABO	T>C	71550	354788	35.6	2.417e-09	1.034
chr2:144305674	rs6704689	ARHGAP15	A>G	27947	136362	32.65	1.102e-08	1.042
chr6:33182895	rs1704996	-	A>C	8470	40015	32.27	1.345e-08	1.072
chr9:136131461	rs8176741	ABO	G>A	8807	47355	31.33	2.179e-08	0.9353
chr6:32546912	rs34252386	HLA-DRB1	A>AG	51291	252725	31.21	2.316e-08	1.034

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr9:2809077	rs117983281	PUM3	C>T	3330	535	23.26	1.413e-06	0.7967
chr15:69490376	rs117307170	GLCE	G>A	3237	515	21.02	4.534e-06	0.8026
chr11:47500267	rs2242081	CELF1	T>C	67019	8959	20.85	4.97e-06	0.9327
chr17:12925227	rs58522260	-	C>T	43176	5857	20.42	6.225e-06	0.9276
chr3:47610572	rs150574744	CSPG5	C>T	2938	471	20.01	7.714e-06	0.7992
chr1:183099560	rs20559	LAMC1	G>A	11048	1595	19.89	8.218e-06	0.8829
chr17:12932451	rs9913132	-	C>G	4522	695	19.71	8.991e-06	0.832
chr12:121400244	rs7961554	-	A>C	47432	6414	19.56	9.744e-06	0.9306
chr1:42829905	rs2494355	-	G>T	65057	8056	19.44	1.041e-05	1.07
chr11:47701528	rs12286721	AGBL2	A>C	67381	8995	18.67	1.55e-05	0.9362
chr12:43064657	rs12322187	-	A>G	6891	1022	18.63	1.586e-05	0.8621
chr17:63774619	rs1833348	CEP112	T>G	65435	8107	18.58	1.632e-05	1.069
chr6:147906607	rs79000448	SAMD5	G>A	7720	1135	18.51	1.692e-05	0.8687
chr16:57948050	rs515155	CNGB1	G>A	73565	9793	18.47	1.728e-05	0.9366
chr20:610322	rs6053515	-	T>C	42980	5247	18.39	1.797e-05	1.076
chr11:67192555	rs1626067	CARNS1	G>A	54810	7363	18.36	1.83e-05	0.935
chr11:47474146	rs12361415	-	T>G	43254	5853	18.21	1.978e-05	0.9316
chr2:178818812	rs7595479	PDE11A	T>C	21218	2514	18.07	2.133e-05	1.101
chr12:42894342	rs7956361	PRICKLE1	T>C	16673	2343	18.07	2.135e-05	0.905
chr19:57176198	rs8108756	ZNF835	T>G	45710	6174	17.9	2.333e-05	0.9331

Associated Diseases ^ⓘ

ID	Name	Top Correlation
ICD: D124	Descending colon	2/20
ICD: D125	Sigmoid colon	8/20
ICD: D128	Rectum	7/20
ICD: K573	Diverticular disease of large intestine without perforation or abscess	7/20
ICD: K579	Diverticular disease of intestine, part unspecified, without perforation or abscess	8/20
ICD: K649	Haemorrhoids, unspecified	2/20
ICD: R194	Change in bowel habit	8/20

ID	Name	Top Correlation
ICD-10: C185	Splenic flexure	0/20
ICD-10: C186	Descending colon	0/20
ICD-10: C187	Sigmoid colon	0/20
ICD-10: D375	Rectum	0/20
ICD-10: I842	Internal haemorrhoids without complication	0/20
ICD-10: I845	External haemorrhoids without complication	0/20
ICD-10: I846	Residual haemorrhoidal skin tags	0/20
ICD-10: I849	Unspecified haemorrhoids without complication	0/20
ICD-10: I859	Oesophageal varices without bleeding	0/20
ICD-10: K512	Ulcerative (chronic) proctitis	0/20
ICD-10: K513	Ulcerative (chronic) rectosigmoiditis	0/20
ICD-10: K571	Diverticular disease of small intestine without perforation or abscess	0/20
ICD-10: K572	Diverticular disease of large intestine with perforation and abscess	0/20
ICD-10: K578	Diverticular disease of intestine, part unspecified, with perforation and abscess	0/20
ICD-10: K600	Acute anal fissure	0/20
ICD-10: K627	Radiation proctitis	0/20
ICD-10: K640	First degree haemorrhoids	0/20
ICD-10: K641	Second degree haemorrhoids	0/20
ICD-10: K642	Third degree haemorrhoids	0/20
ICD-10: K644	Residual haemorrhoidal skin tags	0/20
ICD-10: K648	Other specified haemorrhoids	0/20
ICD-10: K921	Melaena	0/20