Abnormality of the ear

0000598

Normal Case/Contol ^ⓘ

Sibling Case/Control ^ⓘ

Links

Sex Split

Interactive Plot

Statistics

Case	Control
63161	397033

Phenotype Definition

An abnormality of the ear. [HPO:probinson]

Phenotype Comment

Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future.

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	3118	24408	133.5	7.011e-31	0.8009
chr15:48392165	rs1834640	-	A>G	3681	27943	115.9	4.941e-27	0.8259
chr8:145639681	rs1871534	SLC39A4	G>C	2005	16140	108.9	1.683e-25	0.78
chr1:159174683	rs2814778	ACKR1	T>C	2187	17190	96.38	9.465e-23	0.7991
chr24:14850341	rs2032598	USP9Y	T>C	261	2551	83.43	6.595e-20	0.5556
chr6:170242949	rs9396958	-	T>C	1812	14302	82.84	8.912e-20	0.7961
chr13:113979968	rs200506581	GRTP1	C>CCACA	1399	11327	79.32	5.294e-19	0.7764
chr10:31512098	rs2484992	-	C>T	2678	20231	79.27	5.405e-19	0.8313
chr10:31495974	rs1250307	-	A>G	2663	20109	78.43	8.284e-19	0.8317
chr13:113979972	Affx-80297025	GRTP1	A>ACACT	1399	11308	78.12	9.698e-19	0.7779
chr10:31515132	rs2484990	-	C>T	2705	20387	77.99	1.035e-18	0.8333
chr5:147671850	rs7724380	-	G>A	2337	17846	77.41	1.391e-18	0.8228
chr2:163216109	rs3213843	GCA	C>T	1333	10819	77.05	1.667e-18	0.7746
chr16:7465748	rs4786166	RBFOX1	C>T	2038	15756	76.64	2.055e-18	0.8127
chr1:173579034	rs12065033	AL139142.2	C>T	1741	13600	72.1	2.046e-17	0.8048
chr17:6461200	rs73975615	-	A>G	1915	14795	71.13	3.346e-17	0.8138
chr2:226686177	rs7581591	-	T>C	2310	17525	70.97	3.62e-17	0.8287
chr6:396321	rs12203592	IRF4	C>T	28712	172493	70.11	5.604e-17	1.062
chr17:29350769	rs8073072	-	T>G	3063	22643	69.96	6.06e-17	0.8498
chr9:127267689	rs3814134	NR5A1	A>G	3515	25691	69.48	7.704e-17	0.8591
chr6:396321	rs12203592	IRF4	C>T	28359	170556	58.49	2.047e-14	1.057
chr6:421281	rs62389423	-	G>A	23002	138863	39.07	4.098e-10	1.05
chr6:161010118	rs10455872	LPA	A>G	10508	62242	34.68	3.877e-09	1.067
chr6:160997118	rs74617384	LPA	A>T	10226	60662	32.45	1.225e-08	1.066
chr17:38364764	rs55673000	-	C>T	19910	120554	28.71	8.391e-08	1.046
chr17:38544624	rs2715555	-	G>A	18544	112160	27.49	1.579e-07	1.046
chr7:107455339	rs117999267	-	T>G	8964	53320	26.03	3.36e-07	1.062
chr17:38489170	rs2715554	RARA	A>G	19601	118801	26.0	3.415e-07	1.044
chr1:146994158	rs72698227	-	G>A	14655	88229	25.93	3.534e-07	1.049
chr17:38289003	rs7211770	MSL1	A>G	33026	202279	25.68	4.028e-07	1.036
chr2:22594027	rs12616949	-	G>A	43390	266657	24.67	6.791e-07	1.033
chr8:124760369	rs7460871	-	G>T	7623	50830	24.57	7.151e-07	0.9391
chr2:23025454	rs4618088	-	G>A	56640	362127	24.23	8.535e-07	0.9704
chr17:38352388	rs34223321	-	C>A	38484	236445	24.13	8.987e-07	1.033
chr17:38545193	rs13695	TOP2A	C>T	33451	205196	23.97	9.769e-07	1.034
chr6:31364707	rs2251396	-	G>A	42658	262667	23.81	1.064e-06	1.032
chr9:22096055	rs10757274	-	A>G	62576	387577	23.2	1.459e-06	1.03
chr4:140867514	rs797090	MAML3	A>G	46011	294667	22.3	2.337e-06	0.9707
chr9:22098574	rs4977574	-	A>G	62368	386358	22.26	2.379e-06	1.029
chr19:21696963	rs2650829	ZNF429	T>C	24469	158183	22.22	2.433e-06	0.9645

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr6:161010118	rs10455872	LPA	A>G	10508	26078	27.67	1.442e-07	1.065
chr6:160997118	rs74617384	LPA	A>T	10226	25427	25.42	4.613e-07	1.063
chr7:107455339	rs117999267	-	T>G	8964	22259	23.26	1.417e-06	1.065
chr1:146994158	rs72698227	-	G>A	14655	36869	22.82	1.776e-06	1.051
chr11:107085318	Affx-4150211	-	T>C	62194	161078	21.79	3.04e-06	1.031
chr1:216193231	rs115907570	USH2A	C>T	2144	5006	21.62	3.33e-06	1.129
chr10:133889569	rs9419347	JAKMIP3	T>C	41595	111799	21.02	4.542e-06	0.9683
chr6:160922870	rs117733303	-	A>G	2539	6005	20.46	6.081e-06	1.114
chr23:35447740	rs2335396	-	T>C	23055	62163	19.86	8.35e-06	1.04
chr6:160961137	rs3798220	LPA	T>C	2504	5928	19.83	8.466e-06	1.113
chr7:1855870	rs117675468	MAD1L1	G>A	2157	5066	19.72	8.955e-06	1.122
chr2:9814994	rs79734773	-	A>G	9601	26539	18.94	1.349e-05	0.9475
chr25:2679949	rs311121	-	G>T	17516	47725	18.78	1.464e-05	0.9595
chr10:130498783	rs117990091	-	G>A	3614	8736	18.77	1.475e-05	1.091
chr20:10572384	rs78369863	SLX4IP	G>A	7976	19850	18.49	1.71e-05	1.061
chr6:160848743	rs9457925	SLC22A3	G>A	2540	6042	18.42	1.77e-05	1.108
chr12:19089030	rs16914875	-	T>C	1900	5593	18.35	1.841e-05	0.8917
chr5:128537810	rs28778924	-	A>G	11962	30113	18.13	2.058e-05	1.05
chr9:22096055	rs10757274	-	A>G	62576	162268	18.01	2.194e-05	1.028
chr5:68019774	rs35240	-	C>T	43122	111243	17.96	2.256e-05	1.03

Associated Diseases ^ⓘ

ID	Name	Top Correlation
ICD: D125	Sigmoid colon	5/20
ICD: F100	Acute intoxication	1/20
ICD: H538	Other visual disturbances	2/20
ICD: H544	Blindness, one eye	1/20
ICD: H919	Hearing loss, unspecified	7/20
ICD: I258	Other forms of chronic ischaemic heart disease	2/20
ICD: J039	Acute tonsillitis, unspecified	5/20
ICD: L989	Disorder of skin and subcutaneous tissue, unspecified	3/20
ICD: R268	Other and unspecified abnormalities of gait and mobility	1/20
ICD: T172	Foreign body in pharynx	2/20
ICD: Y838	Other surgical procedures	1/20

ID	Name	Top Correlation
ICD-10: B963	Haemophilus influenzae [H. influenzae] as the cause of diseases classified to other chapters	0/20
ICD-10: C187	Sigmoid colon	0/20
ICD-10: C320	Glottis	0/20
ICD-10: D695	Secondary thrombocytopenia	0/20
ICD-10: E105	With peripheral circulatory complications	0/20
ICD-10: E115	With peripheral circulatory complications	0/20
ICD-10: F320	Mild depressive episode	0/20
ICD-10: G431	Migraine with aura [classical migraine]	0/20
ICD-10: G438	Other migraine	0/20
ICD-10: G439	Migraine, unspecified	0/20
ICD-10: G519	Disorder of facial nerve, unspecified	0/20
ICD-10: G590	Diabetic mononeuropathy	0/20
ICD-10: G932	Benign intracranial hypertension	0/20
ICD-10: G939	Disorder of brain, unspecified	0/20
ICD-10: G960	Cerebrospinal fluid leak	0/20
ICD-10: G978	Other postprocedural disorders of nervous system	0/20
ICD-10: H000	Hordeolum and other deep inflammation of eyelid	0/20
ICD-10: H358	Other specified retinal disorders	0/20
ICD-10: H539	Visual disturbance, unspecified	0/20
ICD-10: H571	Ocular pain	0/20
ICD-10: H579	Disorder of eye and adnexa, unspecified	0/20
ICD-10: H609	Otitis externa, unspecified	0/20
ICD-10: H611	Non-infective disorders of pinna	0/20
ICD-10: H612	Impacted cerumen	0/20
ICD-10: H618	Other specified disorders of external ear	0/20
ICD-10: H653	Chronic mucoid otitis media	0/20
ICD-10: H654	Other chronic nonsuppurative otitis media	0/20
ICD-10: H659	Nonsuppurative otitis media, unspecified	0/20
ICD-10: H663	Other chronic suppurative otitis media	0/20
ICD-10: H669	Otitis media, unspecified	0/20
ICD-10: H699	Eustachian tube disorder, unspecified	0/20
ICD-10: H71	Cholesteatoma of middle ear	0/20
ICD-10: H720	Central perforation of tympanic membrane	0/20
ICD-10: H728	Other perforations of tympanic membrane	0/20
ICD-10: H729	Perforation of tympanic membrane, unspecified	0/20
ICD-10: H738	Other specified disorders of tympanic membrane	0/20
ICD-10: H740	Tympanosclerosis	0/20
ICD-10: H743	Other acquired abnormalities of ear ossicles	0/20
ICD-10: H809	Otosclerosis, unspecified	0/20
ICD-10: H810	Meniere's disease	0/20
ICD-10: H811	Benign paroxysmal vertigo	0/20
ICD-10: H812	Vestibular neuronitis	0/20
ICD-10: H830	Labyrinthitis	0/20
ICD-10: H901	Conductive hearing loss, unilateral with unrestricted hearing on the contralateral side	0/20
ICD-10: H902	Conductive hearing loss, unspecified	0/20
ICD-10: H903	Sensorineural hearing loss, bilateral	0/20
ICD-10: H904	Sensorineural hearing loss, unilateral with unrestricted hearing on the contralateral side	0/20
ICD-10: H905	Sensorineural hearing loss, unspecified	0/20
ICD-10: H920	Otalgia	0/20
ICD-10: H921	Otorrhoea	0/20
ICD-10: H931	Tinnitus	0/20
ICD-10: I671	Cerebral aneurysm, nonruptured	0/20
ICD-10: I700	Atherosclerosis of aorta	0/20
ICD-10: I73	Other peripheral vascular diseases	0/20
ICD-10: I99	Other and unspecified disorders of circulatory system	0/20
ICD-10: J029	Acute pharyngitis, unspecified	0/20
ICD-10: J343	Hypertrophy of nasal turbinates	0/20
ICD-10: J392	Other diseases of pharynx	0/20
ICD-10: J398	Other specified diseases of upper respiratory tract	0/20
ICD-10: J61	Pneumoconiosis due to asbestos and other mineral fibres	0/20
ICD-10: K076	Temporomandibular joint disorders	0/20
ICD-10: L089	Local infection of skin and subcutaneous tissue, unspecified	0/20
ICD-10: L918	Other hypertrophic disorders of skin	0/20
ICD-10: L929	Granulomatous disorder of skin and subcutaneous tissue, unspecified	0/20
ICD-10: N301	Interstitial cystitis (chronic)	0/20
ICD-10: N906	Hypertrophy of vulva	0/20
ICD-10: O351	Maternal care for (suspected) chromosomal abnormality in foetus	0/20
ICD-10: Q600	Renal agenesis, unilateral	0/20
ICD-10: R066	Hiccough	0/20
ICD-10: R070	Pain in throat	0/20
ICD-10: R278	Other and unspecified lack of coordination	0/20
ICD-10: R42	Dizziness and giddiness	0/20
ICD-10: Y450	Opioids and related analgesics	0/20
ICD-10: Y839	Surgical procedure, unspecified	0/20
ICD-10: Y86	Sequelae of other accidents	0/20

Abnormality of the ear

0000598

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 ^ⓘ