H81.1

Case	Control
425	459780

Case

Control

425

459780

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds Ratio
chr10:89463201	rs113551777	PAPSS2	C>A	40	18806	29.26	6.336e-08	2.339
chr8:126043324	rs36114239	WASHC5	T>C	36	17165	25.51	4.412e-07	2.306
chr15:65313299	rs76290592	MTFMT	T>A	49	26219	25.01	5.697e-07	2.053
chr11:84009844	rs116978601	DLG2	G>T	46	24590	23.52	1.238e-06	2.052
chr2:52398395	rs78688290	-	T>C	36	17626	23.27	1.409e-06	2.225
chr5:163160726	rs111865472	-	G>T	38	19265	22.55	2.05e-06	2.157
chr15:81007508	rs118037555	ABHD17C	G>A	41	21381	22.48	2.118e-06	2.099
chr4:130747207	rs2968965	-	G>T	374	327605	22.12	2.558e-06	1.371
chr22:50955538	rs131817	NCAPH2	G>A	457	412521	22.06	2.647e-06	1.364
chr5:119615973	rs77083571	-	G>C	34	16815	21.57	3.42e-06	2.207
chr6:159519676	rs78370639	-	T>C	42	22466	21.42	3.689e-06	2.047
chr4:95796896	rs76172175	BMPR1B	C>T	28	12954	21.02	4.548e-06	2.351
chr6:121557105	rs76797106	TBC1D32	A>G	26	11696	20.87	4.927e-06	2.414
chr2:207354317	rs10178671	ADAM23	G>A	35	17796	20.78	5.145e-06	2.155
chr5:72448744	rs536229	-	G>A	60	36625	20.17	7.078e-06	1.807
chr8:125396959	rs73704238	-	C>T	63	38911	20.16	7.111e-06	1.784
chr3:175370156	rs76153418	NAALADL2	C>T	78	51063	20.06	7.487e-06	1.69
chr16:724084	rs1045763	RHOT2	C>T	102	71897	19.81	8.566e-06	1.591
chr14:83126007	rs79049326	-	A>G	47	26812	19.79	8.649e-06	1.925
chr19:59067623	rs2305119	UBE2M	C>T	257	216082	19.47	1.025e-05	1.383

Associated Phenotypes ^ⓘ

ID	Name	Top Correlation
HP: 0000473	Torticollis	1/20
HP: 0008573	Low-frequency sensorineural hearing impairment	20/20
HP: 0011380	Morphological abnormality of the semicircular canal	1/20
HP: 0011381	Aplasia of the semicircular canal	1/20

Name

Top Correlation

HP: 0000473

Torticollis

1/20

HP: 0008573

Low-frequency sensorineural hearing impairment

20/20

HP: 0011380

Morphological abnormality of the semicircular canal

1/20

HP: 0011381

Aplasia of the semicircular canal

1/20

ID	Name	Top Correlation
HP: 0000118	Phenotypic abnormality	0/20
HP: 0000152	Abnormality of head or neck	0/20
HP: 0000234	Abnormality of the head	0/20
HP: 0000359	Abnormality of the inner ear	0/20
HP: 0000364	Hearing abnormality	0/20
HP: 0000365	Hearing impairment	0/20
HP: 0000407	Sensorineural hearing impairment	0/20
HP: 0000464	Abnormality of the neck	0/20
HP: 0000598	Abnormality of the ear	0/20
HP: 0000707	Abnormality of the nervous system	0/20
HP: 0000708	Behavioral abnormality	0/20
HP: 0000924	Abnormality of the skeletal system	0/20
HP: 0000929	Abnormal skull morphology	0/20
HP: 0001332	Dystonia	0/20
HP: 0001751	Vestibular dysfunction	0/20
HP: 0002027	Abdominal pain	0/20
HP: 0002076	Migraine	0/20
HP: 0002183	Phonophobia	0/20
HP: 0002315	Headache	0/20
HP: 0002321	Vertigo	0/20
HP: 0002574	Episodic abdominal pain	0/20
HP: 0003011	Abnormality of the musculature	0/20
HP: 0004373	Focal dystonia	0/20
HP: 0009121	Abnormal axial skeleton morphology	0/20
HP: 0009911	Abnormal temporal bone morphology	0/20
HP: 0010532	Paroxysmal vertigo	0/20
HP: 0011006	Abnormal morphology of the musculature of the neck	0/20
HP: 0011376	Morphological abnormality of the vestibule of the inner ear	0/20
HP: 0011389	Functional abnormality of the inner ear	0/20
HP: 0011390	Morphological abnormality of the inner ear	0/20
HP: 0011442	Abnormal central motor function	0/20
HP: 0011458	Abdominal symptom	0/20
HP: 0011805	Abnormal skeletal muscle morphology	0/20
HP: 0011842	Abnormality of skeletal morphology	0/20
HP: 0012179	Craniofacial dystonia	0/20
HP: 0012531	Pain	0/20
HP: 0012638	Abnormal nervous system physiology	0/20
HP: 0025031	Abnormality of the digestive system	0/20
HP: 0025032	Abnormality of digestive system physiology	0/20
HP: 0025112	Sound sensitivity	0/20
HP: 0025142	Constitutional symptom	0/20
HP: 0031703	Abnormal ear morphology	0/20
HP: 0031704	Abnormal ear physiology	0/20
HP: 0032148	Episodic pain	0/20
HP: 0100022	Abnormality of movement	0/20

Name

Top Correlation

HP: 0000118

Phenotypic abnormality

0/20

HP: 0000152

Abnormality of head or neck

0/20

HP: 0000234

Abnormality of the head

0/20

HP: 0000359