Abnormality of facial skeleton

0011821

Normal Case/Contol ^ⓘ

Sibling Case/Control ^ⓘ

Links

Sex Split

Interactive Plot

Statistics

Case	Control
26782	433412

Phenotype Definition

An abnormality of one or more of the set of bones that make up the facial skeleton. [DDD:awilkie]

Phenotype Comment

The facial skeleton comprises the mandible, maxilla, frontal bone, nasal bones, and zygoma, as well as the inferior nasal concha, the lacrimal bones, the palatine bone, and the vomer.

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr6:32607376	rs34250758	HLA-DQA1	G>A	11810	178453	61.99	3.459e-15	1.088
chr6:32582650	rs3104413	-	C>G	11077	167992	51.51	7.108e-13	1.082
chr6:32583357	rs6931277	-	A>T	10924	165768	51.28	8.02e-13	1.082
chr6:32577973	rs532965	-	T>G	11165	169372	50.83	1.005e-12	1.081
chr6:396321	rs12203592	IRF4	C>T	12377	188828	47.09	6.773e-12	1.075
chr6:32577380	rs660895	-	A>G	12482	191165	42.81	6.019e-11	1.071
chr6:32581973	rs521539	-	G>A	12496	191301	42.62	6.645e-11	1.071
chr6:32303848	rs28361060	TSBP1	G>A	13069	200791	40.02	2.516e-10	1.067
chr6:32257284	rs9268145	TSBP1	T>G	13050	200578	39.08	4.06e-10	1.066
chr6:32333341	rs9268362	TSBP1	A>G	13095	201316	38.97	4.3e-10	1.066
chr6:32282854	rs6910071	TSBP1	A>G	13038	200562	38.04	6.94e-10	1.066
chr6:32548520	rs3830127	HLA-DRB1	C>T	11045	188162	37.7	8.245e-10	0.9352
chr6:32626119	rs28584179	-	C>T	4715	83051	36.64	1.421e-09	0.9097
chr6:32594998	rs116518618	-	C>T	4755	83684	36.08	1.896e-09	0.9107
chr6:32602396	rs9272226	HLA-DQA1	T>C	21606	337733	35.55	2.487e-09	1.055
chr9:6192796	rs2095044	-	C>T	15694	243257	34.66	3.922e-09	1.059
chr9:6193455	rs2381416	-	A>C	15917	246761	34.63	3.988e-09	1.058
chr6:32520509	rs202118863	-	C>T	19822	331537	34.16	5.077e-09	0.9484
chr6:32511791	rs73727981	-	A>C	19754	330326	34.14	5.115e-09	0.9482
chr6:32526736	rs111586361	-	G>C	7601	130762	33.94	5.676e-09	0.9288
chr6:32607376	rs34250758	HLA-DQA1	G>A	11380	171910	63.34	1.744e-15	1.091
chr6:32583357	rs6931277	-	A>T	10570	160386	51.77	6.226e-13	1.084
chr6:32582650	rs3104413	-	C>G	10704	162490	51.08	8.89e-13	1.083
chr6:32577973	rs532965	-	T>G	10793	163874	50.4	1.256e-12	1.082
chr6:32577380	rs660895	-	A>G	11987	182980	48.95	2.629e-12	1.078
chr6:32581973	rs521539	-	G>A	11997	183098	48.44	3.405e-12	1.077
chr6:396321	rs12203592	IRF4	C>T	12222	186693	47.99	4.285e-12	1.077
chr6:32548520	rs3830127	HLA-DRB1	C>T	9854	169232	41.53	1.16e-10	0.9287
chr6:32526736	rs111586361	-	G>C	6837	118764	38.76	4.786e-10	0.9204
chr6:32595874	rs9271894	-	C>T	16049	270653	38.71	4.925e-10	0.9413
chr6:32602396	rs9272226	HLA-DQA1	T>C	20408	318804	38.67	5.012e-10	1.059
chr6:32589051	rs9271489	-	C>A	16254	274102	37.78	7.92e-10	0.9422
chr6:32593392	rs9271709	-	G>A	16129	271992	37.63	8.544e-10	0.9422
chr6:32511791	rs73727981	-	A>C	18224	306247	37.27	1.028e-09	0.9441
chr6:32520509	rs202118863	-	C>T	18293	307383	36.97	1.198e-09	0.9445
chr9:6193455	rs2381416	-	A>C	14745	228262	36.63	1.43e-09	1.062
chr6:32303848	rs28361060	TSBP1	G>A	12742	196495	36.22	1.758e-09	1.065
chr9:6192796	rs2095044	-	C>T	14379	222603	35.8	2.192e-09	1.062
chr6:32257284	rs9268145	TSBP1	T>G	12723	196272	35.33	2.783e-09	1.064
chr6:32333341	rs9268362	TSBP1	A>G	12768	197014	35.11	3.111e-09	1.064

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr6:32607376	rs34250758	HLA-DQA1	G>A	11380	60568	40.29	2.194e-10	1.076
chr9:6192796	rs2095044	-	C>T	14379	77336	36.5	1.525e-09	1.066
chr9:6193455	rs2381416	-	A>C	14745	79371	36.22	1.76e-09	1.065
chr6:32595874	rs9271894	-	C>T	16049	94159	32.63	1.114e-08	0.9432
chr6:32589051	rs9271489	-	C>A	16254	95411	32.29	1.329e-08	0.9438
chr6:32593392	rs9271709	-	G>A	16129	94676	32.1	1.463e-08	0.9438
chr6:32583357	rs6931277	-	A>T	10570	56534	31.37	2.136e-08	1.069
chr6:32511791	rs73727981	-	A>C	18224	106589	30.69	3.035e-08	0.9466
chr6:32582650	rs3104413	-	C>G	10704	57281	30.62	3.131e-08	1.067
chr6:32520509	rs202118863	-	C>T	18293	106927	30.27	3.769e-08	0.9471
chr6:32577973	rs532965	-	T>G	10793	57783	29.98	4.36e-08	1.066
chr6:32577380	rs660895	-	A>G	11987	64445	29.68	5.09e-08	1.063
chr6:32548520	rs3830127	HLA-DRB1	C>T	9854	58595	29.54	5.47e-08	0.9365
chr6:32526736	rs111586361	-	G>C	6837	41129	29.53	5.514e-08	0.9268
chr6:32581973	rs521539	-	G>A	11997	64475	29.47	5.678e-08	1.063
chr6:32549810	rs9269822	HLA-DRB1	G>A	19088	111263	28.93	7.486e-08	0.9487
chr6:32553828	rs113529884	HLA-DRB1	G>A	19412	112984	27.8	1.344e-07	0.9498
chr6:32502249	rs72851052	-	C>T	18416	107348	27.17	1.862e-07	0.9498
chr6:32550012	rs9269831	HLA-DRB1	C>T	19112	111296	27.08	1.951e-07	0.9504
chr6:32428772	rs9268839	-	A>G	25996	142892	26.98	2.06e-07	1.05

Associated Diseases ^ⓘ

ID	Name	Top Correlation
ICD: J310	Chronic rhinitis	1/20
ICD: J329	Chronic sinusitis, unspecified	5/20
ICD: J330	Polyp of nasal cavity	8/20
ICD: J338	Other polyp of sinus	6/20
ICD: J339	Nasal polyp, unspecified	6/20
ICD: Y838	Other surgical procedures	1/20

ID	Name	Top Correlation
ICD-10: A408	Other streptococcal septicaemia	0/20
ICD-10: A498	Other bacterial infections of unspecified site	0/20
ICD-10: A499	Bacterial infection, unspecified	0/20
ICD-10: D563	Thalassaemia trait	0/20
ICD-10: D801	Nonfamilial hypogammaglobulinaemia	0/20
ICD-10: E220	Acromegaly and pituitary gigantism	0/20
ICD-10: F331	Recurrent depressive disorder, current episode moderate	0/20
ICD-10: F332	Recurrent depressive disorder, current episode severe without psychotic symptoms	0/20
ICD-10: F333	Recurrent depressive disorder, current episode severe with psychotic symptoms	0/20
ICD-10: F339	Recurrent depressive disorder, unspecified	0/20
ICD-10: H113	Conjunctival haemorrhage	0/20
ICD-10: H809	Otosclerosis, unspecified	0/20
ICD-10: J019	Acute sinusitis, unspecified	0/20
ICD-10: J029	Acute pharyngitis, unspecified	0/20
ICD-10: J040	Acute laryngitis	0/20
ICD-10: J069	Acute upper respiratory infection, unspecified	0/20
ICD-10: J157	Pneumonia due to Mycoplasma pneumoniae	0/20
ICD-10: J209	Acute bronchitis, unspecified	0/20
ICD-10: J320	Chronic maxillary sinusitis	0/20
ICD-10: J322	Chronic ethmoidal sinusitis	0/20
ICD-10: J324	Chronic pansinusitis	0/20
ICD-10: J328	Other chronic sinusitis	0/20
ICD-10: J341	Cyst and mucocele of nose and nasal sinus	0/20
ICD-10: J348	Other specified disorders of nose and nasal sinuses	0/20
ICD-10: J36	Peritonsillar abscess	0/20
ICD-10: K010	Embedded teeth	0/20
ICD-10: K048	Radicular cyst	0/20
ICD-10: K073	Anomalies of tooth position	0/20
ICD-10: K108	Other specified diseases of jaws	0/20
ICD-10: L032	Cellulitis of face	0/20
ICD-10: M159	Polyarthrosis, unspecified	0/20
ICD-10: M254	Effusion of joint	0/20
ICD-10: M869	Osteomyelitis, unspecified	0/20
ICD-10: N202	Calculus of kidney with calculus of ureter	0/20
ICD-10: T819	Unspecified complication of procedure	0/20
ICD-10: Y834	Other reconstructive surgery	0/20
ICD-10: Y839	Surgical procedure, unspecified	0/20