Hearing abnormality

0000364

Normal Case/Contol ^ⓘ

Sibling Case/Control ^ⓘ

Links

Sex Split

Interactive Plot

Statistics

Case	Control
13905	446289

Phenotype Definition

An abnormality of the sensory perception of sound. [HPO:probinson]

Phenotype Comment

According to the World Health Organization, deafness refers to the complete loss of hearing ability in one or two ears. Hearing impairment refers to both complete and partial loss of the ability to hear.

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	627	26899	51.35	7.728e-13	0.747
chr1:173579034	rs12065033	AL139142.2	C>T	322	15019	43.82	3.601e-11	0.6888
chr17:29350769	rs8073072	-	T>G	596	25110	42.47	7.181e-11	0.7618
chr1:159174683	rs2814778	ACKR1	T>C	429	18948	42.38	7.502e-11	0.727
chr13:113979968	rs200506581	GRTP1	C>CCACA	258	12468	42.33	7.726e-11	0.6648
chr13:113979972	Affx-80297025	GRTP1	A>ACACT	259	12448	41.27	1.324e-10	0.6687
chr8:145639681	rs1871534	SLC39A4	G>C	399	17746	41.07	1.47e-10	0.7224
chr15:48392165	rs1834640	-	A>G	759	30865	41.01	1.515e-10	0.7883
chr15:28388274	rs56013620	HERC2	G>A	189	9691	40.97	1.548e-10	0.6266
chr6:136480972	rs9483910	PDE7B	C>T	487	20883	39.48	3.31e-10	0.7487
chr13:56863954	rs4885962	-	A>C	433	18856	39.13	3.956e-10	0.737
chr10:1411012	rs12762472	ADARB2	G>C	193	9696	38.04	6.932e-10	0.6401
chr19:42392441	rs16975619	ARHGEF1	T>C	457	19553	36.53	1.501e-09	0.7503
chr8:10557760	rs57041981	RP1L1	A>G	369	16279	36.04	1.937e-09	0.7285
chr17:58508582	rs8071181	C17orf64	G>A	337	15080	35.83	2.149e-09	0.7188
chr5:179322514	rs270330	TBC1D9B	T>C	239	11259	34.32	4.67e-09	0.6823
chr16:7465748	rs4786166	RBFOX1	C>T	404	17390	33.71	6.406e-09	0.7459
chr19:42393286	rs717225	ARHGEF1	A>G	515	21428	33.47	7.253e-09	0.7714
chr19:42391425	rs28521795	ARHGEF1	G>A	431	18391	33.46	7.256e-09	0.7535
chr14:57839094	rs1959102	-	C>T	960	37278	33.39	7.558e-09	0.8255
chr16:151287	rs118112009	NPRL3	A>G	636	16736	24.66	6.84e-07	1.225
chr20:53075143	rs78636700	-	A>G	1897	54460	24.29	8.273e-07	1.127
chr2:70667237	rs79847970	-	G>A	2019	58628	20.98	4.65e-06	1.114
chr2:226302613	rs115959146	NYAP2	G>A	1227	34567	20.88	4.896e-06	1.145
chr8:41061995	rs4072356	-	G>A	2024	58904	20.07	7.456e-06	1.111
chr4:42476033	rs13126380	ATP8A1	C>T	11790	366509	19.28	1.128e-05	1.056
chr3:1117233	rs2729117	-	G>A	8422	259338	19.12	1.226e-05	1.06
chr9:2605830	rs56085105	-	G>T	626	16877	18.75	1.487e-05	1.195
chr12:124933494	rs112680078	NCOR2	A>G	694	26184	18.49	1.711e-05	0.846
chr7:29647608	rs10499589	-	G>C	2199	77094	18.14	2.052e-05	0.9085
chr12:124968406	rs112025206	NCOR2	C>T	606	23097	18.03	2.172e-05	0.8382
chr15:22869860	rs2289815	TUBGCP5	G>T	4891	148399	17.93	2.287e-05	1.07
chr1:101198708	rs3181088	VCAM1	C>T	5490	167325	17.85	2.387e-05	1.067
chr10:10604381	rs1041044	-	T>G	13405	441649	17.59	2.738e-05	0.9501
chr4:42435440	rs6849059	ATP8A1	T>C	11137	346383	17.56	2.777e-05	1.054
chr9:21377478	rs7034410	-	A>C	3666	110233	17.5	2.875e-05	1.078
chr8:85681709	rs2634062	RALYL	T>G	6381	214995	17.47	2.923e-05	0.9412
chr16:275920	rs117345827	LUC7L	C>T	662	18049	17.45	2.951e-05	1.182
chr4:47429406	rs76065978	-	A>C	1316	37710	17.26	3.255e-05	1.127
chr1:170513402	rs16863416	GORAB	A>G	5189	159855	17.24	3.301e-05	1.068

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr5:115837772	rs154466	SEMA6A	A>G	6421	4540	24.58	7.121e-07	0.8954
chr10:56165837	rs117821324	PCDH15	G>C	741	625	24.13	9.001e-07	0.7631
chr19:22783220	rs9305001	-	C>A	811	669	21.68	3.213e-06	0.7813
chr4:18786977	rs4108916	-	C>T	7341	4426	20.9	4.851e-06	1.106
chr14:70895531	rs118182954	-	G>A	1201	945	20.38	6.348e-06	0.8179
chr4:7792662	rs877707	AFAP1	T>C	3066	1755	20.11	7.308e-06	1.152
chr23:37242821	rs149191962	PRRG1	A>G	394	359	19.31	1.111e-05	0.724
chr3:116389615	rs16825296	LSAMP	T>G	1273	674	19.26	1.142e-05	1.237
chr17:31727270	rs17184908	ASIC2	C>T	1300	691	18.87	1.4e-05	1.232
chr16:52554055	rs45618336	TOX3	C>A	807	655	18.81	1.443e-05	0.7933
chr7:47570032	rs77151795	TNS3	G>A	6071	4259	18.59	1.621e-05	0.9065
chr19:22765256	rs10411933	-	A>G	932	745	18.48	1.715e-05	0.8065
chr15:67908656	rs75162941	MAP2K5	T>C	516	241	18.34	1.849e-05	1.398
chr5:115833529	rs258013	SEMA6A	A>C	8366	5771	18.23	1.96e-05	0.9157
chr3:63446549	rs115500995	SYNPR	C>T	643	313	17.99	2.226e-05	1.342
chr3:38578248	rs1076825	EXOG	A>T	737	368	17.94	2.28e-05	1.313
chr12:13096761	rs17212430	GPRC5D	C>T	1964	1467	17.91	2.321e-05	0.8591
chr8:108196188	rs117587852	-	A>G	474	408	17.84	2.402e-05	0.7503
chr15:101698924	rs35469830	-	C>T	6188	4322	17.81	2.439e-05	0.9088
chr10:56073457	rs117454433	PCDH15	T>G	739	602	17.68	2.612e-05	0.7914

Associated Diseases ^ⓘ

ID	Name	Top Correlation
ICD: H919	Hearing loss, unspecified	8/20

ID	Name	Top Correlation
ICD-10: E105	With peripheral circulatory complications	0/20
ICD-10: E115	With peripheral circulatory complications	0/20
ICD-10: G932	Benign intracranial hypertension	0/20
ICD-10: G978	Other postprocedural disorders of nervous system	0/20
ICD-10: H609	Otitis externa, unspecified	0/20
ICD-10: H612	Impacted cerumen	0/20
ICD-10: H699	Eustachian tube disorder, unspecified	0/20
ICD-10: H728	Other perforations of tympanic membrane	0/20
ICD-10: H729	Perforation of tympanic membrane, unspecified	0/20
ICD-10: H740	Tympanosclerosis	0/20
ICD-10: H810	Meniere's disease	0/20
ICD-10: H811	Benign paroxysmal vertigo	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: H931	Tinnitus	0/20
ICD-10: I671	Cerebral aneurysm, nonruptured	0/20
ICD-10: I99	Other and unspecified disorders of circulatory system	0/20
ICD-10: L918	Other hypertrophic disorders of skin	0/20
ICD-10: N301	Interstitial cystitis (chronic)	0/20
ICD-10: N906	Hypertrophy of vulva	0/20
ICD-10: Y450	Opioids and related analgesics	0/20