X60.0

Case	Control
299	459906

Case

Control

299

459906

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds Ratio
chr9:115391322	rs75667795	KIAA1958	A>G	22	11318	30.68	3.04e-08	3.129
chr13:48825230	rs78714534	ITM2B	C>G	26	15096	28.58	8.981e-08	2.794
chr6:19233910	rs74691684	-	G>C	49	37664	26.9	2.138e-07	2.127
chr14:80803658	rs117452009	DIO2	T>C	28	17503	25.76	3.874e-07	2.577
chr5:137225387	rs116292864	PKD2L2	G>A	35	24439	24.7	6.708e-07	2.317
chr1:9144999	rs41280750	SLC2A5	G>A	19	10276	23.85	1.039e-06	2.96
chr3:126038541	rs73205066	-	C>T	43	33095	23.65	1.158e-06	2.12
chr7:41695390	rs77147973	-	A>G	34	24147	23.16	1.493e-06	2.284
chr1:67103625	rs146866301	SGIP1	G>A	30	20293	22.94	1.675e-06	2.386
chr17:171761	rs34240043	RPH3AL	C>T	47	37922	22.53	2.067e-06	2.026
chr18:77358737	rs77932661	-	C>A	37	27359	22.49	2.113e-06	2.191
chr15:86157492	rs117843607	AKAP13	C>T	31	21555	22.1	2.585e-06	2.32
chr6:129930774	rs77196540	ARHGAP18	G>A	27	18065	21.29	3.94e-06	2.411
chr8:124128457	rs117515476	TBC1D31	G>A	24	15345	21.23	4.078e-06	2.526
chr11:6051329	rs77053285	OR56A1	T>C	46	37456	21.21	4.116e-06	1.998
chr2:213030170	rs62182562	ERBB4	C>T	191	223457	21.09	4.391e-06	1.488
chr8:139749799	rs10111520	COL22A1	G>T	64	57893	20.76	5.204e-06	1.809
chr2:879198	rs6709435	-	G>A	33	24100	20.71	5.356e-06	2.211
chr12:115082017	rs35220816	-	C>G	55	48101	20.65	5.519e-06	1.881
chr17:55151038	rs77977428	-	G>C	110	115754	20.55	5.812e-06	1.608

Associated Phenotypes ^ⓘ

ID	Name	Top Correlation
HP: 0005324	Disturbance of facial expression	1/20
HP: 0011468	Facial tics	4/20
HP: 0011859	Punctate keratitis	1/20

Name

Top Correlation

HP: 0005324

Disturbance of facial expression

1/20

4/20

1/20

ID	Name	Top Correlation
HP: 0000077	Abnormality of the kidney	0/20
HP: 0000079	Abnormality of the urinary system	0/20
HP: 0000091	Abnormal renal tubule morphology	0/20
HP: 0000118	Phenotypic abnormality	0/20
HP: 0000119	Abnormality of the genitourinary system	0/20
HP: 0000152	Abnormality of head or neck	0/20
HP: 0000234	Abnormality of the head	0/20
HP: 0000271	Abnormality of the face	0/20
HP: 0000478	Abnormality of the eye	0/20
HP: 0000481	Abnormal cornea morphology	0/20
HP: 0000491	Keratitis	0/20
HP: 0000707	Abnormality of the nervous system	0/20
HP: 0000708	Behavioral abnormality	0/20
HP: 0000742	Self-mutilation	0/20
HP: 0000759	Abnormal peripheral nervous system morphology	0/20
HP: 0000834	Abnormality of the adrenal glands	0/20
HP: 0000846	Adrenal insufficiency	0/20
HP: 0000847	Abnormality of renin-angiotensin system	0/20
HP: 0000924	Abnormality of the skeletal system	0/20
HP: 0001155	Abnormality of the hand	0/20
HP: 0001167	Abnormality of finger	0/20
HP: 0001211	Abnormal fingertip morphology	0/20
HP: 0001217	Clubbing	0/20
HP: 0001574	Abnormality of the integument	0/20
HP: 0001597	Abnormality of the nail	0/20
HP: 0001626	Abnormality of the cardiovascular system	0/20
HP: 0001871	Abnormality of blood and blood-forming tissues	0/20
HP: 0001877	Abnormal erythrocyte morphology	0/20
HP: 0001939	Abnormality of metabolism/homeostasis	0/20
HP: 0001969	Abnormal tubulointerstitial morphology	0/20
HP: 0001970	Tubulointerstitial nephritis	0/20
HP: 0002086	Abnormality of the respiratory system	0/20
HP: 0002093	Respiratory insufficiency	0/20
HP: 0002165	Pterygium of nails	0/20
HP: 0002643	Neonatal respiratory distress	0/20
HP: 0002715	Abnormality of the immune system	0/20
HP: 0002795	Functional respiratory abnormality	0/20
HP: 0002813	Abnormality of limb bone morphology	0/20
HP: 0002817	Abnormality of the upper limb	0/20
HP: 0003115	Abnormal EKG	0/20
HP: 0003117	Abnormal circulating hormone level	0/20
HP: 0003119	Abnormal circulating lipid concentration	0/20
HP: 0003330	Abnormal bone structure	0/20
HP: 0004313	Decreased antibody level in blood	0/20
HP: 0004315	Decreased circulating IgG level	0/20
HP: 0004319	Decreased circulating aldosterone level	0/20
HP: 0004328	Abnormal anterior eye segment morphology	0/20
HP: 0005346	Abnormal facial expression	0/20
HP: 0005368	Abnormality of humoral immunity	0/20
HP: 0005372	Abnormality of B cell physiology	0/20
HP: 0005922	Abnormal hand morphology	0/20
HP: 0006919	Abnormal aggressive, impulsive or violent behavior	0/20
HP: 0007141	Sensorimotor neuropathy	0/20
HP: 0008207	Primary adrenal insufficiency	0/20
HP: 0009830	Peripheral neuropathy	0/20
HP: 0009831	Mononeuropathy	0/20
HP: 0010701	Abnormal immunoglobulin level	0/20
HP: 0010935	Abnormality of the upper urinary tract	0/20
HP: 0010978	Abnormality of immune system physiology	0/20
HP: 0011017	Abnormal cellular physiology	0/20
HP: 0011025	Abnormal cardiovascular system physiology	0/20
HP: 0011138	Abnormality of skin adnexa morphology	0/20
HP: 0011297	Abnormal digit morphology	0/20
HP: 0011495	Abnormal corneal epithelium morphology	0/20
HP: 0011733	Abnormality of adrenal physiology	0/20
HP: 0011842	Abnormality of skeletal morphology	0/20
HP: 0011843	Abnormality of skeletal physiology	0/20
HP: 0011844	Abnormal appendicular skeleton morphology	0/20
HP: 0012130	Abnormal erythroid lineage cell morphology	0/20
HP: 0012131	Abnormal number of erythroid precursors	0/20
HP: 0012210	Abnormal renal morphology	0/20
HP: 0012248	Prolonged PR interval	0/20
HP: 0012372	Abnormal eye morphology	0/20
HP: 0012373	Abnormal eye physiology	0/20
HP: 0012575	Abnormal nephron morphology	0/20
HP: 0012638	Abnormal nervous system physiology	0/20
HP: 0012639	Abnormal nervous system morphology	0/20
HP: 0012647	Abnormal inflammatory response	0/20
HP: 0012649	Increased inflammatory response	0/20
HP: 0020047	Abnormal myeloid cell morphology	0/20
HP: 0025354	Abnormal cellular phenotype	0/20
HP: 0030313	Abnormal periosteum morphology	0/20
HP: 0030956	Abnormality of cardiovascular system electrophysiology	0/20
HP: 0031072	Abnormal endocrine physiology	0/20
HP: 0031409	Abnormal lymphocyte physiology	0/20
HP: 0031485	Subperiosteal bone formation	0/20
HP: 0031589	Suicidal ideation	0/20
HP: 0031593	Abnormal PR interval	0/20
HP: 0032180	Abnormal circulating metabolite concentration	0/20
HP: 0032537	Delayed fracture healing	0/20
HP: 0040064	Abnormality of limbs	0/20
HP: 0040068	Abnormality of limb bone	0/20
HP: 0040085	Abnormal circulating aldosterone	0/20
HP: 0040166	Abnormality of the periosteum	0/20
HP: 0045014	Hypolipidemia	0/20
HP: 0100533	Inflammatory abnormality of the eye	0/20
HP: 0100716	Self-injurious behavior	0/20
HP: 0100759	Clubbing of fingers	0/20
HP: 0100851	Abnormal emotion/affect behavior	0/20
HP: 0200020	Corneal erosion	0/20
HP: 0410242	Abnormal IgG level	0/20
HP: 0500015	Abnormal cardiac test	0/20

Name

Top Correlation

HP: 0000077

Abnormality of the kidney

0/20

HP: 0000079

Abnormality of the urinary system

0/20

HP: 0000091

Abnormal renal tubule morphology

0/20

HP: 0000118