Abnormality of the pinna

0000377

Normal Case/Contol ^ⓘ

Sibling Case/Control ^ⓘ

Links

Sex Split

Interactive Plot

Statistics

Case	Control
24473	435721

Phenotype Definition

An abnormality of the pinna, which is also referred to as the auricle or external ear. [HPO:probinson]

Phenotype Comment

The term 'dysplastic' is no longer accepted as a descriptor for an ear with unusual morphology. Each specific anatomical component of the ear should be described when the ear is thought to be abnormal in appearance.

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	1065	26461	113.9	1.35e-26	0.7149
chr8:145639681	rs1871534	SLC39A4	G>C	651	17494	106.9	4.667e-25	0.662
chr1:159174683	rs2814778	ACKR1	T>C	720	18657	97.48	5.452e-23	0.687
chr6:161010118	rs10455872	LPA	A>G	4470	69229	96.1	1.091e-22	1.171
chr6:160997118	rs74617384	LPA	A>T	4336	67491	88.57	4.917e-21	1.166
chr9:22096055	rs10757274	-	A>G	26016	446536	88.1	6.209e-21	1.089
chr15:48392165	rs1834640	-	A>G	1306	30318	87.41	8.828e-21	0.7658
chr9:22098574	rs4977574	-	A>G	25899	444522	87.11	1.026e-20	1.088
chr2:163216109	rs3213843	GCA	C>T	416	11736	85.42	2.416e-20	0.6319
chr17:58508582	rs8071181	C17orf64	G>A	562	14855	84.11	4.688e-20	0.6745
chr9:22124477	rs10757278	-	A>G	25662	440438	83.25	7.225e-20	1.086
chr9:22088260	rs10757272	-	C>T	25931	445817	79.27	5.423e-19	1.084
chr9:22125503	rs1333049	-	G>C	25651	440787	78.97	6.319e-19	1.084
chr6:136480972	rs9483910	PDE7B	C>T	843	20527	78.68	7.317e-19	0.7312
chr13:72463541	rs1460465	-	A>G	603	15521	78.19	9.378e-19	0.6927
chr4:110940045	rs4698804	-	T>C	701	17563	78.1	9.815e-19	0.711
chr9:22125347	rs1333048	-	A>C	26546	457111	77.33	1.443e-18	1.083
chr1:25589335	rs28670433	RSRP1	A>G	538	14095	77.07	1.647e-18	0.6802
chr6:136505700	rs6570070	PDE7B	G>C	362	10275	76.22	2.544e-18	0.6285
chr2:226686177	rs7581591	-	T>C	777	19058	75.54	3.572e-18	0.7267
chr6:161010118	rs10455872	LPA	A>G	4408	68342	85.95	1.842e-20	1.163
chr6:160997118	rs74617384	LPA	A>T	4274	66614	78.79	6.9e-19	1.158
chr9:22096055	rs10757274	-	A>G	24812	425341	67.45	2.165e-16	1.079
chr9:22098574	rs4977574	-	A>G	24724	424002	65.14	6.983e-16	1.078
chr9:22124477	rs10757278	-	A>G	24482	419624	63.46	1.637e-15	1.077
chr9:22125503	rs1333049	-	G>C	24466	419452	63.08	1.982e-15	1.077
chr9:22125347	rs1333048	-	A>C	25267	433874	62.65	2.463e-15	1.076
chr9:22088260	rs10757272	-	C>T	24633	422573	61.99	3.453e-15	1.076
chr9:22081850	rs6475606	-	C>T	24478	420284	59.5	1.225e-14	1.074
chr9:22115959	rs2383207	-	G>A	22897	423124	58.2	2.363e-14	0.9314
chr9:22083404	rs1333040	-	T>C	19512	361046	47.68	5.026e-12	0.9366
chr11:111165009	rs7103178	-	T>C	15496	263297	45.57	1.47e-11	1.07
chr11:111171709	rs3802842	COLCA2	A>C	15451	262692	44.71	2.28e-11	1.069
chr6:160848743	rs9457925	SLC22A3	G>A	1099	15946	43.95	3.366e-11	1.232
chr6:160922870	rs117733303	-	A>G	1093	15891	42.96	5.594e-11	1.23
chr11:111125512	rs2001754	C11orf53	A>G	17189	293991	40.13	2.378e-10	1.064
chr6:160961137	rs3798220	LPA	T>C	1075	15707	40.07	2.451e-10	1.223
chr6:160687412	rs10080815	SLC22A2	T>G	1145	16992	36.54	1.496e-09	1.205
chr9:22068652	rs4977756	-	A>G	18994	349646	32.8	1.024e-08	0.9469
chr8:106253881	rs10955382	ZFPM2	G>A	13401	228549	30.17	3.955e-08	1.06

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr12:13872044	rs2268118	GRIN2B	G>T	2736	284	25.49	4.443e-07	0.722
chr16:77643421	rs280872	-	T>C	11061	981	25.26	5.021e-07	0.8234
chr13:73639505	rs76915478	KLF5	A>G	3546	352	23.33	1.367e-06	0.7535
chr2:116120305	rs75376630	DPP10	T>C	753	96	22.75	1.845e-06	0.5959
chr10:114714917	rs57255539	TCF7L2	C>A	746	95	22.62	1.977e-06	0.5952
chr3:18785072	rs12496888	-	G>T	671	86	20.83	5.017e-06	0.5929
chr20:53465603	rs117090358	-	G>A	1038	122	20.81	5.085e-06	0.644
chr14:69233836	rs747854	-	G>A	18108	1526	20.57	5.753e-06	0.855
chr17:37715786	rs79860652	CDK12	T>C	519	70	20.5	5.974e-06	0.5634
chr2:178051659	rs113447001	-	G>A	1583	172	19.81	8.556e-06	0.6951
chr16:77675995	rs11649438	-	G>T	7178	650	19.74	8.881e-06	0.819
chr18:39945791	rs72905113	-	C>T	1320	56	19.72	8.963e-06	1.825
chr1:171303925	rs3820170	FMO4	C>T	20658	1442	19.71	8.991e-06	1.167
chr12:125102870	rs78991727	-	C>T	4817	287	18.81	1.443e-05	1.315
chr23:139653140	rs73580439	-	T>G	1043	131	18.64	1.576e-05	0.6659
chr1:171301033	rs2294483	FMO4	C>G	21887	1539	18.56	1.643e-05	1.16
chr1:178037527	rs12081844	-	G>T	3216	315	18.53	1.675e-05	0.7675
chr6:31804729	rs11968400	-	C>T	2804	152	18.37	1.814e-05	1.437
chr1:10246761	rs75933695	-	C>T	1016	117	18.12	2.073e-05	0.6577
chr4:105671319	rs11724123	-	T>C	787	95	18.05	2.151e-05	0.6293

Associated Diseases ^ⓘ

ID	Name	Top Correlation
ICD: D125	Sigmoid colon	5/20
ICD: H538	Other visual disturbances	2/20
ICD: I258	Other forms of chronic ischaemic heart disease	10/20
ICD: I73	Other peripheral vascular diseases	8/20

ID	Name	Top Correlation
ICD-10: C187	Sigmoid colon	0/20
ICD-10: H539	Visual disturbance, unspecified	0/20
ICD-10: H571	Ocular pain	0/20
ICD-10: H611	Non-infective disorders of pinna	0/20
ICD-10: J398	Other specified diseases of upper respiratory tract	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: Y838	Other surgical procedures	0/20
ICD-10: Y839	Surgical procedure, unspecified	0/20