C78.1

Case	Control
112	460093

Case

Control

112

460093

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds Ratio
chr15:26151105	rs117617716	-	C>T	72	154671	43.03	5.397e-11	2.473
chr1:17514033	rs115017113	-	C>G	18	21751	34.07	5.305e-09	3.795
chr2:85808087	rs72843861	VAMP8	C>T	49	99337	32.36	1.282e-08	2.432
chr1:53047467	rs17373931	-	A>G	21	30961	27.38	1.671e-07	3.118
chr15:26131431	rs4906802	-	C>G	51	111663	26.95	2.083e-07	2.236
chr10:20462543	rs76948563	PLXDC2	C>T	16	20930	26.15	3.16e-07	3.472
chr7:17396017	rs117835367	AC019117.4	G>A	19	26883	26.06	3.313e-07	3.196
chr15:26134955	rs11636552	-	T>G	61	146269	25.44	4.573e-07	2.094
chr14:78560993	rs117962013	-	A>G	16	21410	24.98	5.797e-07	3.387
chr6:52779143	rs35611659	-	T>A	17	23663	24.72	6.634e-07	3.267
chr21:24192910	rs62209372	-	T>C	11	12004	24.31	8.216e-07	4.081
chr15:26141769	rs77193301	-	A>G	51	115343	24.11	9.105e-07	2.149
chr15:37356924	rs76842236	MEIS2	T>C	18	26164	24.03	9.47e-07	3.132
chr1:25443597	rs17370787	-	C>T	34	67097	23.47	1.267e-06	2.396
chr2:1788623	rs6748017	-	T>G	81	218412	23.37	1.337e-06	1.932
chr1:214400631	rs116746608	-	T>G	20	31027	23.31	1.378e-06	2.939
chr3:144102495	rs115673047	-	T>C	20	31339	23.08	1.551e-06	2.925
chr3:108866143	rs79923928	C3orf85	G>A	20	31670	22.58	2.016e-06	2.894
chr6:112593932	rs56268709	AL365214.2	C>A	16	22707	22.39	2.221e-06	3.194
chr1:17544981	rs72895786	PADI1	G>A	28	52046	22.22	2.433e-06	2.507
chr15:26151105	rs117617716	-	C>T	72	147742	42.6	6.731e-11	2.467
chr1:17514033	rs115017113	-	C>G	18	21477	31.88	1.64e-08	3.654
chr11:95269114	rs12286445	-	C>T	12	11945	29.39	5.926e-08	4.367
chr2:85808087	rs72843861	VAMP8	C>T	49	97966	29.32	6.136e-08	2.339
chr15:26131431	rs4906802	-	C>G	51	104488	28.25	1.065e-07	2.279
chr15:26134955	rs11636552	-	T>G	61	136009	27.41	1.648e-07	2.153
chr1:53047467	rs17373931	-	A>G	21	30225	25.97	3.473e-07	3.036
chr10:20462543	rs76948563	PLXDC2	C>T	16	20452	24.86	6.168e-07	3.378
chr11:37948190	rs11034519	-	G>C	11	11425	24.34	8.089e-07	4.084
chr7:17396017	rs117835367	AC019117.4	G>A	19	26477	24.28	8.351e-07	3.083
chr15:26141769	rs77193301	-	A>G	51	109696	24.15	8.896e-07	2.152
chr14:78560993	rs117962013	-	A>G	16	21107	23.33	1.363e-06	3.267
chr3:112164278	rs1488266	-	T>C	46	97210	23.23	1.441e-06	2.176
chr21:24192910	rs62209372	-	T>C	11	11730	23.23	1.436e-06	3.972
chr6:52779143	rs35611659	-	T>A	17	23273	23.15	1.5e-06	3.158
chr7:136111845	rs17168667	-	T>G	22	34382	22.97	1.649e-06	2.801
chr15:37356924	rs76842236	MEIS2	T>C	18	25612	22.67	1.922e-06	3.042
chr3:144102495	rs115673047	-	T>C	20	30125	22.57	2.031e-06	2.894
chr1:25443597	rs17370787	-	C>T	34	64848	22.5	2.098e-06	2.356
chr1:17544981	rs72895786	PADI1	G>A	28	49415	22.31	2.318e-06	2.513

Associated Phenotypes ^ⓘ

ID	Name	Top Correlation
HP: 0010516	Thymus hyperplasia	3/20
HP: 0500011	Moon facies	1/20

Name

Top Correlation

3/20

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: 0000271	Abnormality of the face	0/20
HP: 0000315	Abnormality of the orbital region	0/20
HP: 0000478	Abnormality of the eye	0/20
HP: 0000496	Abnormality of eye movement	0/20
HP: 0000597	Ophthalmoparesis	0/20
HP: 0000602	Ophthalmoplegia	0/20
HP: 0000707	Abnormality of the nervous system	0/20
HP: 0000708	Behavioral abnormality	0/20
HP: 0000765	Abnormality of the thorax	0/20
HP: 0000777	Abnormality of the thymus	0/20
HP: 0000924	Abnormality of the skeletal system	0/20
HP: 0001626	Abnormality of the cardiovascular system	0/20
HP: 0001999	Abnormal facial shape	0/20
HP: 0002012	Abnormality of the abdominal organs	0/20
HP: 0002242	Abnormal intestine morphology	0/20
HP: 0002250	Abnormal large intestine morphology	0/20
HP: 0002597	Abnormality of the vasculature	0/20
HP: 0002664	Neoplasm	0/20
HP: 0002672	Gastrointestinal carcinoma	0/20
HP: 0002715	Abnormality of the immune system	0/20
HP: 0002716	Lymphadenopathy	0/20
HP: 0002733	Abnormality of the lymph nodes	0/20
HP: 0002890	Thyroid carcinoma	0/20
HP: 0003011	Abnormality of the musculature	0/20
HP: 0004378	Abnormality of the anus	0/20
HP: 0006731	Follicular thyroid carcinoma	0/20
HP: 0006749	Malignant gastrointestinal tract tumors	0/20
HP: 0007378	Neoplasm of the gastrointestinal tract	0/20
HP: 0007824	Total ophthalmoplegia	0/20
HP: 0008049	Abnormality of the extraocular muscles	0/20
HP: 0009121	Abnormal axial skeleton morphology	0/20
HP: 0011024	Abnormality of the gastrointestinal tract	0/20
HP: 0011772	Abnormality of thyroid morphology	0/20
HP: 0011793	Neoplasm by anatomical site	0/20
HP: 0011805	Abnormal skeletal muscle morphology	0/20
HP: 0011842	Abnormality of skeletal morphology	0/20
HP: 0012373	Abnormal eye physiology	0/20
HP: 0012531	Pain	0/20
HP: 0012638	Abnormal nervous system physiology	0/20
HP: 0012718	Morphological abnormality of the gastrointestinal tract	0/20
HP: 0012732	Anorectal anomaly	0/20
HP: 0025031	Abnormality of the digestive system	0/20
HP: 0025033	Abnormality of digestive system morphology	0/20
HP: 0025142	Constitutional symptom	0/20
HP: 0030437	Anal canal neoplasm	0/20
HP: 0030439	Anal canal adenocarcinoma	0/20
HP: 0030669	Abnormal ocular adnexa morphology	0/20
HP: 0031071	Abnormal endocrine morphology	0/20
HP: 0032039	Abnormality of the ocular adnexa	0/20
HP: 0032141	Precordial pain	0/20
HP: 0040273	Adenocarcinoma of the intestines	0/20
HP: 0040275	Adenocarcinoma of the large intestine	0/20
HP: 0045026	Abnormality of the mediastinum	0/20
HP: 0045027	Abnormality of the thoracic cavity	0/20
HP: 0100031	Neoplasm of the thyroid gland	0/20
HP: 0100568	Neoplasm of the endocrine system	0/20
HP: 0100721	Mediastinal lymphadenopathy	0/20
HP: 0100749	Chest pain	0/20
HP: 0100763	Abnormality of the lymphatic system	0/20
HP: 0100834	Neoplasm of the large intestine	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: 0000271