Abnormality of the foot

0001760

Normal Case/Contol ^ⓘ

Sibling Case/Control ^ⓘ

Links

Sex Split

Interactive Plot

Statistics

Case	Control
57449	402745

Phenotype Definition

An abnormality of the skeleton of foot. [HPO:probinson]

Phenotype Comment

A disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, congenital vertical talus (rocker bottom foot), and many others.

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	2943	24583	77.87	1.102e-18	0.8402
chr5:33951693	rs16891982	SLC45A2	G>C	7698	59360	58.59	1.94e-14	0.9086
chr15:48392165	rs1834640	-	A>G	3487	28137	58.5	2.034e-14	0.87
chr5:33958959	rs28777	SLC45A2	A>C	6506	50486	56.08	6.969e-14	0.9036
chr24:14850341	rs2032598	USP9Y	T>C	217	2595	51.91	5.821e-13	0.6029
chr1:236085940	rs12038310	-	C>T	1615	13661	48.77	2.872e-12	0.8313
chr2:3313043	rs73133173	EIPR1	A>C	1522	12941	48.42	3.446e-12	0.8274
chr20:2315543	rs6132532	AL121899.2	A>G	5680	43854	43.73	3.777e-11	0.9089
chr5:147863034	rs9325101	HTR4	A>G	1800	14940	43.52	4.188e-11	0.8473
chr4:9926967	rs13129697	SLC2A9	T>G	32822	239241	42.91	5.741e-11	0.9558
chr19:42392310	rs2288509	ARHGEF1	C>T	1897	15647	42.75	6.216e-11	0.852
chr6:170602429	rs17860704	DLL1	T>C	1227	10491	41.53	1.159e-10	0.8227
chr14:33956209	rs1012023	NPAS3	C>A	3729	29331	41.06	1.473e-10	0.893
chr2:235130071	rs10177096	-	A>G	2336	18914	40.7	1.772e-10	0.8683
chr6:25918225	rs80215559	SLC17A2	T>C	9277	61107	40.35	2.127e-10	1.076
chr13:74193208	rs7988974	-	T>C	2256	18290	40.31	2.172e-10	0.8668
chr6:170242949	rs9396958	-	T>C	1738	14376	40.23	2.262e-10	0.8504
chr19:42392441	rs16975619	ARHGEF1	T>C	2195	17815	39.48	3.318e-10	0.8665
chr19:42391425	rs28521795	ARHGEF1	G>A	2057	16765	39.23	3.765e-10	0.8629
chr5:106908138	rs163961	EFNA5	A>C	3444	27124	38.78	4.755e-10	0.892
chr4:9934744	rs737267	SLC2A9	G>T	27787	201366	36.3	1.689e-09	0.9566
chr4:9935910	rs6855911	SLC2A9	A>G	27854	201873	36.0	1.974e-09	0.9569
chr4:9923004	rs734553	SLC2A9	T>G	26526	192329	35.23	2.937e-09	0.9566
chr4:9926967	rs13129697	SLC2A9	T>G	29832	215880	35.19	2.984e-09	0.9583
chr6:25918225	rs80215559	SLC17A2	T>C	9188	60507	33.77	6.207e-09	1.07
chr4:7282506	rs17755381	SORCS2	A>G	29790	203056	27.63	1.469e-07	1.039
chr4:10331294	rs4698036	-	T>G	24146	174718	27.24	1.793e-07	0.9605
chr7:114015707	rs12705960	FOXP2	A>C	56652	390480	26.94	2.1e-07	1.033
chr15:38907041	rs7171171	-	A>G	22995	155988	26.92	2.117e-07	1.042
chr15:38902476	rs17574546	-	A>C	22884	155219	26.83	2.221e-07	1.042
chr4:10407572	rs4643800	-	G>T	23796	172215	26.6	2.508e-07	0.9607
chr4:9922167	rs16890979	SLC2A9	C>T	25047	180868	25.63	4.131e-07	0.9621
chr4:9995182	rs3775948	SLC2A9	C>G	27265	196595	25.3	4.914e-07	0.9634
chr6:25842951	rs1408272	SLC17A3	T>G	9400	62484	25.01	5.708e-07	1.059
chr7:114210814	rs17137124	FOXP2	C>T	49543	353608	24.99	5.774e-07	0.9686
chr8:17736125	rs2517311	FGL1	G>T	23932	172897	24.94	5.927e-07	0.962
chr3:57430988	rs6768943	DNAH12	A>G	55862	385163	24.86	6.169e-07	1.032
chr7:153922974	rs10277199	DPP6	G>A	8292	61486	24.86	6.153e-07	0.9412
chr4:9966380	rs7442295	SLC2A9	A>G	24197	174796	24.6	7.046e-07	0.9624
chr5:92341590	rs163946	-	T>C	50852	362678	24.4	7.827e-07	0.9691

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr4:9935910	rs6855911	SLC2A9	A>G	27854	34213	30.43	3.461e-08	0.95
chr4:89052323	rs2231142	ABCG2	G>T	13431	14929	30.01	4.298e-08	1.072
chr4:9934744	rs737267	SLC2A9	G>T	27787	34102	29.77	4.872e-08	0.9505
chr4:9923004	rs734553	SLC2A9	T>G	26526	32572	28.58	8.969e-08	0.9507
chr4:9926967	rs13129697	SLC2A9	T>G	29832	36521	27.16	1.875e-07	0.9537
chr4:9922167	rs16890979	SLC2A9	C>T	25047	30750	26.15	3.158e-07	0.9518
chr3:119265945	rs6773021	CD80	A>G	1274	1242	23.53	1.233e-06	1.214
chr4:9966380	rs7442295	SLC2A9	A>G	24197	29659	22.86	1.747e-06	0.9543
chr7:153922974	rs10277199	DPP6	G>A	8292	10484	22.83	1.767e-06	0.9296
chr21:44788262	rs573283	-	G>A	30978	35476	22.43	2.185e-06	1.044
chr7:150684021	rs117564322	-	G>A	3911	4168	22.2	2.461e-06	1.112
chr1:118327386	rs7549979	-	C>T	49503	57206	21.95	2.802e-06	1.039
chr22:46381234	rs62228062	-	A>G	29564	36046	21.61	3.341e-06	0.9584
chr4:4280297	rs28473270	LYAR	C>T	1612	1620	21.55	3.441e-06	1.178
chr5:149602824	rs2241695	CAMK2A	T>C	50874	58897	20.68	5.422e-06	1.037
chr4:89020934	rs4148157	ABCG2	G>A	11590	12964	20.42	6.222e-06	1.063
chr3:189294011	rs115171330	-	C>T	4929	5337	20.29	6.654e-06	1.095
chr11:65956577	rs7946917	PACS1	A>G	22013	25051	20.23	6.867e-06	1.047
chr21:44777878	rs1000472	-	C>T	36791	42352	19.51	1.001e-05	1.039
chr21:38710971	rs73903586	-	C>T	2672	3531	19.45	1.031e-05	0.8919

Associated Diseases ^ⓘ

ID	Name	Top Correlation
ICD: D225	Melanocytic naevi of trunk	6/20
ICD: J342	Deviated nasal septum	3/20
ICD: L720	Epidermal cyst	1/20
ICD: M109	Gout, unspecified	1/20
ICD: M189	Arthrosis of first carpometacarpal joint, unspecified	5/20
ICD: M1994	Arthrosis, unspecified (Hand)	4/20
ICD: M1997	Arthrosis, unspecified (Ankle and foot)	5/20
ICD: M202	Hallux rigidus	4/20
ICD: M204	Other hammer toe(s) (acquired)	8/20
ICD: M205	Other deformities of toe(s) (acquired)	4/20
ICD: M722	Plantar fascial fibromatosis	1/20
ICD: O049	Complete or unspecified, without complication	4/20

ID	Name	Top Correlation
ICD-10: D688	Other specified coagulation defects	0/20
ICD-10: G600	Hereditary motor and sensory neuropathy	0/20
ICD-10: G990	Autonomic neuropathy in endocrine and metabolic diseases	0/20
ICD-10: H492	Sixth [abducent] nerve palsy	0/20
ICD-10: I517	Cardiomegaly	0/20
ICD-10: I723	Aneurysm of iliac artery	0/20
ICD-10: I73	Other peripheral vascular diseases	0/20
ICD-10: I792	Peripheral angiopathy in diseases classified elsewhere	0/20
ICD-10: I872	Venous insufficiency (chronic) (peripheral)	0/20
ICD-10: K292	Alcoholic gastritis	0/20
ICD-10: K550	Acute vascular disorders of intestine	0/20
ICD-10: K639	Disease of intestine, unspecified	0/20
ICD-10: L400	Psoriasis vulgaris	0/20
ICD-10: L600	Ingrowing nail	0/20
ICD-10: L83	Acanthosis nigricans	0/20
ICD-10: L84	Corns and callosities	0/20
ICD-10: L89	Decubitus ulcer	0/20
ICD-10: M146	Neuropathic arthropathy	0/20
ICD-10: M180	Primary arthrosis of first carpometacarpal joints, bilateral	0/20
ICD-10: M181	Other primary arthrosis of first carpometacarpal joint	0/20
ICD-10: M190	Primary arthrosis of other joints	0/20
ICD-10: M1995	Arthrosis, unspecified (Pelvic region and thigh)	0/20
ICD-10: M1996	Arthrosis, unspecified-Lower leg	0/20
ICD-10: M1998	Arthrosis, unspecified (Other)	0/20
ICD-10: M1999	Arthrosis, unspecified (Site unspecified)	0/20
ICD-10: M201	Hallux valgus (acquired)	0/20
ICD-10: M203	Other deformity of hallux (acquired)	0/20
ICD-10: M2107	Valgus deformity, not elsewhere classified (Ankle and foot)	0/20
ICD-10: M2116	Varus deformity, not elsewhere classified (Lower leg)	0/20
ICD-10: M2117	Varus deformity, not elsewhere classified (Ankle and foot)	0/20
ICD-10: M214	Flat foot [pes planus] (acquired)	0/20
ICD-10: M254	Effusion of joint	0/20
ICD-10: M658	Other synovitis and tenosynovitis	0/20
ICD-10: M659	Synovitis and tenosynovitis, unspecified	0/20
ICD-10: M6591	Synovitis and tenosynovitis, unspecified (Shoulder region)	0/20
ICD-10: M6593	Synovitis and tenosynovitis, unspecified (Forearm)	0/20
ICD-10: M6594	Synovitis and tenosynovitis, unspecified (Hand)	0/20
ICD-10: M6596	Synovitis and tenosynovitis, unspecified (Lower leg)	0/20
ICD-10: M6597	Synovitis and tenosynovitis, unspecified (Ankle and foot)	0/20
ICD-10: M702	Olecranon bursitis	0/20
ICD-10: M766	Achilles tendinitis	0/20
ICD-10: M774	Metatarsalgia	0/20
ICD-10: M869	Osteomyelitis, unspecified	0/20
ICD-10: M960	Pseudarthrosis after fusion or arthrodesis	0/20
ICD-10: O044	Incomplete, without complication	0/20
ICD-10: O992	Endocrine, nutritional and metabolic diseases complicating pregnancy, childbirth and the puerperium	0/20
ICD-10: Q668	Other congenital deformities of feet	0/20
ICD-10: R619	Hyperhidrosis, unspecified	0/20
ICD-10: Y450	Opioids and related analgesics	0/20