Abnormal skull morphology

0000929

Normal Case/Contol ^ⓘ

Sibling Case/Control ^ⓘ

Links

Sex Split

Interactive Plot

Statistics

Case	Control
72520	387674

Phenotype Definition

An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. [HPO:probinson]

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr6:396321	rs12203592	IRF4	C>T	33007	168198	82.62	9.924e-20	1.064
chr4:100239319	rs1229984	ADH1B	C>T	4293	26183	65.02	7.418e-16	0.8741
chr3:181586376	rs10937067	-	G>A	1810	11716	57.47	3.436e-14	0.825
chr11:44843134	rs11038167	TSPAN18	A>C	1367	9082	56.37	6.005e-14	0.8038
chr2:26113913	rs78404020	-	A>G	1859	11958	55.39	9.864e-14	0.8299
chr2:136407479	rs1446585	R3HDM1	A>G	40744	225654	54.23	1.784e-13	0.9548
chr7:114015707	rs12705960	FOXP2	A>C	76724	402432	53.74	2.287e-13	1.042
chr6:93667780	rs9363020	-	G>A	1597	10394	53.72	2.316e-13	0.8206
chr15:48426484	rs1426654	SLC24A5	A>G	3899	23627	52.95	3.423e-13	0.8804
chr1:29783282	rs6676357	-	T>C	1322	8732	51.38	7.614e-13	0.8089
chr2:150445102	rs4618014	-	A>G	2169	13670	51.0	9.223e-13	0.847
chr2:211717706	rs12995612	-	C>G	2268	14204	49.08	2.458e-12	0.8526
chr13:74144529	rs9573252	-	C>G	2956	18088	46.36	9.855e-12	0.8726
chr6:25842951	rs1408272	SLC17A3	T>G	12073	60606	45.35	1.647e-11	1.072
chr9:9860780	rs2147065	PTPRD	T>C	2800	17167	45.32	1.669e-11	0.8707
chr1:169510139	rs13306334	F5	G>A	1565	10043	45.19	1.789e-11	0.8324
chr6:25918225	rs80215559	SLC17A2	T>C	11699	58685	44.64	2.372e-11	1.073
chr14:34703938	rs7141321	EGLN3	T>C	2030	12716	43.89	3.482e-11	0.8528
chr2:135837906	rs7570971	RAB3GAP1	C>A	46686	256887	43.53	4.18e-11	0.9609
chr16:75565284	rs2738792	AC009163.3	G>A	16205	91470	43.44	4.362e-11	0.9423
chr6:396321	rs12203592	IRF4	C>T	32581	166334	72.06	2.085e-17	1.06
chr7:114223723	rs1229761	FOXP2	A>C	47495	261621	54.35	1.676e-13	0.9561
chr7:114015707	rs12705960	FOXP2	A>C	71736	375396	53.64	2.402e-13	1.043
chr6:25918225	rs80215559	SLC17A2	T>C	11568	58127	40.07	2.449e-10	1.069
chr6:25842951	rs1408272	SLC17A3	T>G	11920	59964	40.05	2.482e-10	1.068
chr6:25488583	rs2274089	CARMIL1	C>T	14746	74825	37.29	1.018e-09	1.06
chr6:421281	rs62389423	-	G>A	26310	135555	36.51	1.522e-09	1.046
chr7:114107594	rs10225528	FOXP2	G>C	37384	205716	36.5	1.526e-09	0.9613
chr7:114210814	rs17137124	FOXP2	C>T	62469	340682	36.04	1.928e-09	0.9659
chr6:32282854	rs6910071	TSBP1	A>G	33799	175181	34.81	3.643e-09	1.041
chr6:32303848	rs28361060	TSBP1	G>A	33837	175400	34.73	3.795e-09	1.041
chr6:32338986	rs2073044	TSBP1	C>T	38308	198936	34.69	3.867e-09	1.039
chr6:32257284	rs9268145	TSBP1	T>G	33790	175205	34.4	4.486e-09	1.041
chr6:16948451	rs17770697	-	G>A	33767	186107	34.34	4.631e-09	0.9612
chr2:136407479	rs1446585	R3HDM1	A>G	34185	188275	34.05	5.364e-09	0.9615
chr6:32333341	rs9268362	TSBP1	A>G	33918	175864	33.91	5.783e-09	1.04
chr3:71536301	rs62247171	FOXP1	C>T	42833	234007	33.08	8.826e-09	0.9641
chr6:32582650	rs3104413	-	C>G	28066	145128	33.01	9.183e-09	1.043
chr6:32577973	rs532965	-	T>G	28308	146359	32.7	1.076e-08	1.042
chr6:32583357	rs6931277	-	A>T	27704	143252	32.49	1.196e-08	1.043

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr7:114015707	rs12705960	FOXP2	A>C	71736	192631	37.47	9.284e-10	1.038
chr7:114223723	rs1229761	FOXP2	A>C	47495	133475	36.76	1.335e-09	0.9612
chr6:396321	rs12203592	IRF4	C>T	32581	86258	32.08	1.482e-08	1.043
chr6:32376348	rs3763312	-	G>A	32815	87093	29.4	5.897e-08	1.041
chr6:32371915	rs3793127	BTNL2	C>T	33033	87720	28.25	1.065e-07	1.04
chr6:32375973	rs3763309	-	C>A	32981	87583	28.22	1.084e-07	1.04
chr6:32387809	rs2395163	-	T>C	32896	87362	27.99	1.218e-07	1.04
chr6:32338986	rs2073044	TSBP1	C>T	38308	101987	27.42	1.64e-07	1.037
chr6:32402778	rs9268614	-	T>G	33417	88812	26.97	2.069e-07	1.039
chr6:25488583	rs2274089	CARMIL1	C>T	14746	38497	26.57	2.54e-07	1.054
chr6:72678893	rs9342907	RIMS1	A>G	5403	13633	26.43	2.735e-07	1.088
chr6:32583357	rs6931277	-	A>T	27704	73483	25.32	4.854e-07	1.04
chr6:32582650	rs3104413	-	C>G	28066	74447	24.98	5.803e-07	1.04
chr6:32577973	rs532965	-	T>G	28308	75077	24.95	5.886e-07	1.04
chr6:32607376	rs34250758	HLA-DQA1	G>A	29677	78768	24.94	5.905e-07	1.039
chr6:32257284	rs9268145	TSBP1	T>G	33790	89995	23.85	1.043e-06	1.036
chr6:26148326	rs806973	-	A>G	55286	154215	23.77	1.083e-06	0.9697
chr21:18425348	rs8132107	-	A>G	72462	195364	23.57	1.203e-06	1.03
chr6:25842951	rs1408272	SLC17A3	T>G	11920	31036	23.48	1.263e-06	1.056
chr6:32282854	rs6910071	TSBP1	A>G	33799	90011	23.46	1.274e-06	1.036

Associated Diseases ^ⓘ

ID	Name	Top Correlation
ICD: D563	Thalassaemia trait	1/20
ICD: F101	Harmful use	5/20
ICD: F103	Withdrawal state	2/20
ICD: F121	Harmful use	1/20
ICD: H830	Labyrinthitis	1/20
ICD: J310	Chronic rhinitis	1/20
ICD: J330	Polyp of nasal cavity	1/20
ICD: K227	Barrett's oesophagus	1/20
ICD: K589	Irritable bowel syndrome without diarrhoea	1/20
ICD: M159	Polyarthrosis, unspecified	3/20
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: C320	Glottis	0/20
ICD-10: D329	Meninges, unspecified	0/20
ICD-10: D333	Cranial nerves	0/20
ICD-10: D801	Nonfamilial hypogammaglobulinaemia	0/20
ICD-10: E220	Acromegaly and pituitary gigantism	0/20
ICD-10: F112	Dependence syndrome	0/20
ICD-10: F171	Harmful use	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: G458	Other transient cerebral ischaemic attacks and related syndromes	0/20
ICD-10: G930	Cerebral cysts	0/20
ICD-10: G932	Benign intracranial hypertension	0/20
ICD-10: G938	Other specified disorders of brain	0/20
ICD-10: G960	Cerebrospinal fluid leak	0/20
ICD-10: H113	Conjunctival haemorrhage	0/20
ICD-10: H609	Otitis externa, unspecified	0/20
ICD-10: H618	Other specified disorders of external ear	0/20
ICD-10: H669	Otitis media, unspecified	0/20
ICD-10: H748	Other specified disorders of middle ear and mastoid	0/20
ICD-10: H809	Otosclerosis, unspecified	0/20
ICD-10: H811	Benign paroxysmal vertigo	0/20
ICD-10: H921	Otorrhoea	0/20
ICD-10: I601	Subarachnoid haemorrhage from middle cerebral artery	0/20
ICD-10: I602	Subarachnoid haemorrhage from anterior communicating artery	0/20
ICD-10: I603	Subarachnoid haemorrhage from posterior communicating artery	0/20
ICD-10: I609	Subarachnoid haemorrhage, unspecified	0/20
ICD-10: I611	Intracerebral haemorrhage in hemisphere, cortical	0/20
ICD-10: I619	Intracerebral haemorrhage, unspecified	0/20
ICD-10: I620	Subdural haemorrhage (acute) (nontraumatic)	0/20
ICD-10: I629	Intracranial haemorrhage (nontraumatic), unspecified	0/20
ICD-10: I671	Cerebral aneurysm, nonruptured	0/20
ICD-10: I690	Sequelae of subarachnoid haemorrhage	0/20
ICD-10: I691	Sequelae of intracerebral haemorrhage	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: J329	Chronic sinusitis, unspecified	0/20
ICD-10: J338	Other polyp of sinus	0/20
ICD-10: J339	Nasal polyp, unspecified	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: J398	Other specified diseases of upper respiratory tract	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: K089	Disorder of teeth and supporting structures, unspecified	0/20
ICD-10: K108	Other specified diseases of jaws	0/20
ICD-10: K115	Sialolithiasis	0/20
ICD-10: K130	Diseases of lips	0/20
ICD-10: K149	Disease of tongue, unspecified	0/20
ICD-10: L032	Cellulitis of face	0/20
ICD-10: M0730	Other psoriatic arthropathies (Multiple sites)	0/20
ICD-10: M0739	Other psoriatic arthropathies (Site unspecified)	0/20
ICD-10: M200	Deformity of finger(s)	0/20
ICD-10: M254	Effusion of joint	0/20
ICD-10: M258	Other specified joint disorders	0/20
ICD-10: M436	Torticollis	0/20
ICD-10: M480	Spinal stenosis	0/20
ICD-10: M7980	Other specified soft tissue disorders (Multiple sites)	0/20
ICD-10: M7982	Other specified soft tissue disorders (Upper arm)	0/20
ICD-10: M7983	Other specified soft tissue disorders (Forearm)	0/20
ICD-10: M7984	Other specified soft tissue disorders (Hand)	0/20
ICD-10: M7985	Other specified soft tissue disorders (Pelvic region and thigh)	0/20
ICD-10: M7986	Other specified soft tissue disorders (Lower leg)	0/20
ICD-10: M7987	Other specified soft tissue disorders (Ankle and foot)	0/20
ICD-10: M7989	Other specified soft tissue disorders (Site unspecified)	0/20
ICD-10: M858	Other specified disorders of bone density and structure	0/20
ICD-10: M869	Osteomyelitis, unspecified	0/20
ICD-10: M88	Paget's disease of bone [osteitis deformans]	0/20
ICD-10: M898	Other specified disorders of bone	0/20
ICD-10: N202	Calculus of kidney with calculus of ureter	0/20
ICD-10: O48	Prolonged pregnancy	0/20
ICD-10: R092	Respiratory arrest	0/20
ICD-10: R232	Flushing	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

Abnormal skull morphology

0000929

Normal Case/Contol ⓘ

Sibling Case/Control ⓘ

Links

Statistics

Phenotype Definition

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 ^ⓘ