Abnormality of the anus

0004378

Normal Case/Contol ^ⓘ

Sibling Case/Control ^ⓘ

Links

Sex Split

Interactive Plot

Statistics

Case	Control
44486	415708

Phenotype Definition

Abnormality of the anal canal. [HPO:probinson]

Phenotype Comment

The anal canal is continuous proximally with the rectum and distally terminates with the anus.

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr9:136149229	rs505922	ABO	T>C	29624	283436	38.72	4.887e-10	0.9552
chr9:136137065	rs687621	ABO	A>G	29933	286032	36.48	1.546e-09	0.9565
chr9:136143442	rs612169	ABO	A>G	29983	286471	36.08	1.897e-09	0.9569
chr9:136132908	rs8176719	ABO	T>TC	31551	301236	35.14	3.068e-09	0.9579
chr9:136142355	rs643434	ABO	G>A	31958	304846	34.84	3.586e-09	0.9582
chr9:136139265	rs657152	ABO	C>A	31827	303555	34.03	5.436e-09	0.9587
chr9:22125503	rs1333049	-	G>C	44557	421881	34.03	5.424e-09	0.9609
chr9:136142203	rs514659	ABO	A>C	28890	276030	33.41	7.465e-09	0.9578
chr9:136155000	rs635634	-	C>T	16363	158330	32.33	1.301e-08	0.9499
chr9:136149399	rs507666	ABO	G>A	16492	159494	32.13	1.443e-08	0.9502
chr9:22124477	rs10757278	-	A>G	44581	421519	30.17	3.949e-08	0.9631
chr9:136153875	rs651007	-	C>T	18772	180684	29.41	5.847e-08	0.9546
chr5:33955326	rs35390	SLC45A2	A>C	4325	36822	29.38	5.951e-08	1.093
chr12:66401444	rs11175997	-	A>G	11810	115001	29.38	5.964e-08	0.9456
chr2:53656677	rs10496023	-	A>G	2608	21653	29.3	6.207e-08	1.12
chr6:21330808	rs9348465	-	A>C	19588	175188	29.02	7.174e-08	1.047
chr2:53669583	rs17044722	-	A>C	1453	11613	28.74	8.266e-08	1.162
chr5:33955673	rs35391	SLC45A2	C>T	4304	36676	28.72	8.369e-08	1.092
chr9:136154168	rs579459	-	T>C	18783	180665	28.69	8.502e-08	0.9552
chr6:21327621	rs12192730	-	T>C	26276	236480	28.14	1.129e-07	1.041
chr9:136149229	rs505922	ABO	T>C	27335	264558	44.74	2.254e-11	0.9502
chr9:136143442	rs612169	ABO	A>G	27466	265677	43.65	3.921e-11	0.9508
chr9:136137065	rs687621	ABO	A>G	27433	265314	42.78	6.111e-11	0.9512
chr9:136142355	rs643434	ABO	G>A	29391	283633	41.33	1.286e-10	0.9529
chr9:136142203	rs514659	ABO	A>C	26528	256606	40.48	1.985e-10	0.9519
chr9:136139265	rs657152	ABO	C>A	29295	282676	40.48	1.989e-10	0.9534
chr9:136132908	rs8176719	ABO	T>TC	29320	282963	39.65	3.033e-10	0.9538
chr9:22125503	rs1333049	-	G>C	42124	401794	31.6	1.895e-08	0.961
chr9:136155000	rs635634	-	C>T	15532	151430	30.55	3.248e-08	0.95
chr12:66401444	rs11175997	-	A>G	11215	110271	30.28	3.748e-08	0.9433
chr9:136149399	rs507666	ABO	G>A	15649	152475	30.23	3.828e-08	0.9504
chr9:22124477	rs10757278	-	A>G	42167	401939	30.19	3.921e-08	0.9619
chr17:44333890	Affx-13934460	-	G>A	19917	179417	29.02	7.165e-08	1.047
chr9:136153875	rs651007	-	C>T	17802	172604	27.42	1.639e-07	0.9549
chr17:44038785	Affx-13929237	MAPT	A>G	20102	181626	26.95	2.086e-07	1.045
chr17:44326845	rs2696624	-	A>G	18858	169537	26.8	2.26e-07	1.046
chr9:136154168	rs579459	-	T>C	17817	172616	26.58	2.527e-07	0.9556
chr9:22096055	rs10757274	-	A>G	42788	407365	26.11	3.22e-07	0.9645
chr17:43661801	Affx-13923041	-	T>G	19360	174651	26.11	3.217e-07	1.045
chr9:136154867	rs495828	-	G>T	17794	172354	26.03	3.367e-07	0.956

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr12:66401444	rs11175997	-	A>G	11215	14924	26.42	2.747e-07	0.9335
chr6:1775863	rs722585	GMDS	G>A	24539	31876	25.8	3.797e-07	0.9504
chr6:21327621	rs12192730	-	T>C	23267	28035	25.72	3.956e-07	1.054
chr5:64238731	rs11738728	CWC27	G>A	31396	40583	25.58	4.251e-07	0.9536
chr2:18728276	rs2346133	-	C>T	6769	9160	24.96	5.865e-07	0.92
chr2:20878105	rs9306894	GDF7	A>G	31431	40628	24.96	5.856e-07	0.9542
chr2:36783599	rs17019087	FEZ2	T>C	32533	41978	24.88	6.09e-07	0.9546
chr7:73320111	rs12538362	-	C>T	17999	21597	24.0	9.644e-07	1.057
chr9:94939981	rs9299400	-	G>A	31749	38657	23.8	1.07e-06	1.048
chr5:64137108	rs10434529	CWC27	T>C	30052	38804	23.63	1.169e-06	0.955
chr25:155183483	rs73237015	-	G>A	16054	21048	23.0	1.619e-06	0.9459
chr9:95218829	rs8067	CENPP	G>T	33352	40648	22.52	2.077e-06	1.045
chr4:80968639	rs4566597	ANTXR2	T>C	10452	12351	22.3	2.336e-06	1.069
chr2:215248914	rs116332067	SPAG16	T>C	2871	4028	22.08	2.615e-06	0.8898
chr14:93842808	rs1956544	UNC79	T>C	25376	30711	22.07	2.625e-06	1.049
chr10:85740524	rs17250702	-	G>A	20490	24691	21.8	3.028e-06	1.051
chr6:21330808	rs9348465	-	A>C	17771	21344	21.79	3.049e-06	1.054
chr9:95284873	rs9299405	CENPP	A>G	25066	30388	21.77	3.076e-06	1.048
chr9:95279985	rs968040	CENPP	C>A	24966	30255	21.57	3.42e-06	1.048
chr12:51213765	rs11169571	ATF1	T>C	35603	45765	21.17	4.193e-06	0.9587

Associated Diseases ^ⓘ

ID	Name	Top Correlation
ICD: I842	Internal haemorrhoids without complication	1/20
ICD: I848	Unspecified haemorrhoids with other complications	7/20
ICD: I849	Unspecified haemorrhoids without complication	9/20
ICD: K602	Anal fissure, unspecified	1/20
ICD: K603	Anal fistula	2/20
ICD: K649	Haemorrhoids, unspecified	2/20

ID	Name	Top Correlation
ICD-10: A630	Anogenital (venereal) warts	0/20
ICD-10: B80	Enterobiasis	0/20
ICD-10: C01	Malignant neoplasm of base of tongue	0/20
ICD-10: C210	Anus, unspecified	0/20
ICD-10: C211	Anal canal	0/20
ICD-10: C770	Lymph nodes of head, face and neck	0/20
ICD-10: C778	Lymph nodes of multiple regions	0/20
ICD-10: C779	Lymph node, unspecified	0/20
ICD-10: C781	Secondary malignant neoplasm of mediastinum	0/20
ICD-10: C80	Malignant neoplasm without specification of site	0/20
ICD-10: D129	Anus and anal canal	0/20
ICD-10: I843	External thrombosed haemorrhoids	0/20
ICD-10: I844	External haemorrhoids with other complications	0/20
ICD-10: I845	External haemorrhoids without complication	0/20
ICD-10: I846	Residual haemorrhoidal skin tags	0/20
ICD-10: I847	Unspecified thrombosed haemorrhoids	0/20
ICD-10: K600	Acute anal fissure	0/20
ICD-10: K601	Chronic anal fissure	0/20
ICD-10: K610	Anal abscess	0/20
ICD-10: K613	Ischiorectal abscess	0/20
ICD-10: K620	Anal polyp	0/20
ICD-10: K624	Stenosis of anus and rectum	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: L050	Pilonidal cyst with abscess	0/20
ICD-10: L059	Pilonidal cyst without abscess	0/20
ICD-10: L270	Generalised skin eruption due to drugs and medicaments	0/20
ICD-10: L290	Pruritus ani	0/20
ICD-10: L732	Hidradenitis suppurativa	0/20
ICD-10: L918	Other hypertrophic disorders of skin	0/20
ICD-10: M88	Paget's disease of bone [osteitis deformans]	0/20
ICD-10: N751	Abscess of Bartholin's gland	0/20
ICD-10: O702	Third degree perineal laceration during delivery	0/20
ICD-10: R15	Faecal incontinence	0/20
ICD-10: R21	Rash and other nonspecific skin eruption	0/20

Abnormality of the anus

0004378

Normal Case/Contol ⓘ

Sibling Case/Control ⓘ

Links

Statistics

Phenotype Definition

Phenotype Comment

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 ^ⓘ