J95

Case	Control
501	459693

Case

Control

501

459693

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds Ratio
chr5:177028676	rs28404158	B4GALT7	A>C	44	19705	24.23	8.554e-07	2.1
chr4:122301595	rs55693553	QRFPR	C>A	38	16463	23.04	1.585e-06	2.169
chr7:50620021	Affx-30568790	DDC	T>C	43	19509	22.89	1.716e-06	2.074
chr20:47469238	rs34112716	-	T>C	270	191981	22.4	2.211e-06	1.394
chr21:44710506	rs117056663	-	G>A	39	17586	21.33	3.869e-06	2.091
chr4:110773048	rs61745483	LRIT3	C>A	54	27115	20.98	4.64e-06	1.878
chr16:88623823	rs1871657	-	T>C	439	340093	20.73	5.296e-06	1.328
chr12:57777712	rs77521820	R3HDM2	G>T	105	63273	20.39	6.305e-06	1.586
chr8:129381657	rs113652673	-	C>G	28	11490	19.45	1.034e-05	2.276
chr5:14968147	rs835101	-	A>G	450	479806	19.28	1.13e-05	0.7615
chr8:116236717	rs6984488	-	G>C	57	90118	19.27	1.138e-05	0.5544
chr22:48060420	rs9615577	-	C>T	72	40272	19.06	1.267e-05	1.694
chr2:240625989	rs115014767	-	G>A	69	38206	18.91	1.372e-05	1.708
chr8:116162223	rs1389913	-	C>T	50	82047	18.68	1.543e-05	0.5397
chr2:204697332	rs78769094	-	C>T	34	15365	18.37	1.823e-05	2.078
chr10:25170302	rs74640492	PRTFDC1	T>G	50	25529	18.35	1.839e-05	1.843
chr10:65902281	rs10995823	-	C>T	55	28899	18.32	1.871e-05	1.795
chr1:217356246	rs1393391	-	C>T	231	164698	18.2	1.992e-05	1.372
chr9:86504005	rs13289566	KIF27	C>T	167	207957	18.12	2.078e-05	0.6992
chr3:137926476	rs79835427	ARMC8	T>G	37	17273	18.0	2.215e-05	2.007

Associated Phenotypes ^ⓘ

Name

Top Correlation

ID	Name	Top Correlation
HP: 0000008	Abnormal morphology of female internal genitalia	0/20
HP: 0000078	Abnormality of the genital system	0/20
HP: 0000118	Phenotypic abnormality	0/20
HP: 0000119	Abnormality of the genitourinary system	0/20
HP: 0000137	Abnormality of the ovary	0/20
HP: 0000152	Abnormality of head or neck	0/20
HP: 0000464	Abnormality of the neck	0/20
HP: 0000470	Short neck	0/20
HP: 0000707	Abnormality of the nervous system	0/20
HP: 0000775	Abnormality of the diaphragm	0/20
HP: 0000812	Abnormal internal genitalia	0/20
HP: 0000924	Abnormality of the skeletal system	0/20
HP: 0000925	Abnormality of the vertebral column	0/20
HP: 0000951	Abnormality of the skin	0/20
HP: 0000969	Edema	0/20
HP: 0001028	Hemangioma	0/20
HP: 0001197	Abnormality of prenatal development or birth	0/20
HP: 0001317	Abnormal cerebellum morphology	0/20
HP: 0001324	Muscle weakness	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: 0001627	Abnormal heart morphology	0/20
HP: 0001629	Ventricular septal defect	0/20
HP: 0001636	Tetralogy of Fallot	0/20
HP: 0001641	Abnormal pulmonary valve morphology	0/20
HP: 0001642	Pulmonic stenosis	0/20
HP: 0001654	Abnormal heart valve morphology	0/20
HP: 0001667	Right ventricular hypertrophy	0/20
HP: 0001671	Abnormal cardiac septum morphology	0/20
HP: 0001679	Abnormal aortic morphology	0/20
HP: 0001707	Abnormal right ventricle morphology	0/20
HP: 0001710	Conotruncal defect	0/20
HP: 0001713	Abnormal cardiac ventricle morphology	0/20
HP: 0001714	Ventricular hypertrophy	0/20
HP: 0001871	Abnormality of blood and blood-forming tissues	0/20
HP: 0001881	Abnormal leukocyte morphology	0/20
HP: 0001892	Abnormal bleeding	0/20
HP: 0001939	Abnormality of metabolism/homeostasis	0/20
HP: 0002011	Morphological central nervous system abnormality	0/20
HP: 0002012	Abnormality of the abdominal organs	0/20
HP: 0002086	Abnormality of the respiratory system	0/20
HP: 0002087	Abnormality of the upper respiratory tract	0/20
HP: 0002088	Abnormal lung morphology	0/20
HP: 0002090	Pneumonia	0/20
HP: 0002091	Restrictive ventilatory defect	0/20
HP: 0002093	Respiratory insufficiency	0/20
HP: 0002094	Dyspnea	0/20
HP: 0002097	Emphysema	0/20
HP: 0002098	Respiratory distress	0/20
HP: 0002103	Abnormality of the pleura	0/20
HP: 0002107	Pneumothorax	0/20
HP: 0002108	Spontaneous pneumothorax	0/20
HP: 0002111	Restrictive deficit on pulmonary function testing	0/20
HP: 0002113	Pulmonary infiltrates	0/20
HP: 0002202	Pleural effusion	0/20
HP: 0002206	Pulmonary fibrosis	0/20
HP: 0002242	Abnormal intestine morphology	0/20
HP: 0002243	Protein-losing enteropathy	0/20
HP: 0002244	Abnormality of the small intestine	0/20
HP: 0002363	Abnormality of brainstem morphology	0/20
HP: 0002508	Brainstem dysplasia	0/20
HP: 0002542	Olivopontocerebellar atrophy	0/20
HP: 0002597	Abnormality of the vasculature	0/20
HP: 0002623	Overriding aorta	0/20
HP: 0002643	Neonatal respiratory distress	0/20
HP: 0002650	Scoliosis	0/20
HP: 0002664	Neoplasm	0/20
HP: 0002715	Abnormality of the immune system	0/20
HP: 0002720	Decreased circulating IgA level	0/20
HP: 0002747	Respiratory insufficiency due to muscle weakness	0/20
HP: 0002751	Kyphoscoliosis	0/20
HP: 0002763	Abnormal cartilage morphology	0/20
HP: 0002778	Abnormal trachea morphology	0/20
HP: 0002791	Hypoventilation	0/20
HP: 0002793	Abnormal pattern of respiration	0/20
HP: 0002795	Functional respiratory abnormality	0/20
HP: 0002808	Kyphosis	0/20
HP: 0002835	Aspiration	0/20
HP: 0002877	Nocturnal hypoventilation	0/20
HP: 0002878	Respiratory failure	0/20
HP: 0003011	Abnormality of the musculature	0/20
HP: 0003319	Abnormality of the cervical spine	0/20
HP: 0003470	Paralysis	0/20
HP: 0004303	Abnormal muscle fiber morphology	0/20
HP: 0004313	Decreased antibody level in blood	0/20
HP: 0004347	Weakness of muscles of respiration	0/20
HP: 0004414	Abnormality of the pulmonary artery	0/20
HP: 0004433	Secretory IgA deficiency	0/20
HP: 0004469	Chronic bronchitis	0/20
HP: 0004930	Abnormality of the pulmonary vasculature	0/20
HP: 0004971	Pulmonary artery hypoplasia	0/20
HP: 0005148	Pulmonary valve defects	0/20
HP: 0005306	Capillary hemangioma	0/20
HP: 0005347	Cartilaginous trachea	0/20
HP: 0005368	Abnormality of humoral immunity	0/20
HP: 0005372	Abnormality of B cell physiology	0/20
HP: 0005607	Abnormal tracheobronchial morphology	0/20
HP: 0005828	Transient pulmonary infiltrates	0/20
HP: 0005942	Desquamative interstitial pneumonitis	0/20
HP: 0005948	Multiple pulmonary cysts	0/20
HP: 0005952	Decreased pulmonary function	0/20
HP: 0005954	Pulmonary capillary hemangiomatosis	0/20
HP: 0005957	Breathing dysregulation	0/20
HP: 0006510	Chronic obstructive pulmonary disease	0/20
HP: 0006515	Interstitial pneumonitis	0/20
HP: 0006516	Hypersensitivity pneumonitis	0/20
HP: 0006522	Repeated pneumothoraces	0/20
HP: 0006530	Interstitial pulmonary abnormality	0/20
HP: 0006536	Obstructive lung disease	0/20
HP: 0006539	Bronchial cartilage hypoplasia	0/20
HP: 0006597	Diaphragmatic paralysis	0/20
HP: 0007378	Neoplasm of the gastrointestinal tract	0/20
HP: 0007379	Neoplasm of the genitourinary tract	0/20
HP: 0007430	Generalized edema	0/20
HP: 0007461	Hemangiomatosis	0/20
HP: 0009058	Increased muscle lipid content	0/20
HP: 0009113	Diaphragmatic weakness	0/20
HP: 0009121	Abnormal axial skeleton morphology	0/20
HP: 0009131	Abnormality of the musculature of the thorax	0/20
HP: 0010438	Abnormal ventricular septum morphology	0/20
HP: 0010444	Pulmonary insufficiency	0/20
HP: 0010460	Abnormality of the female genitalia	0/20
HP: 0010674	Abnormality of the curvature of the vertebral column	0/20
HP: 0010701	Abnormal immunoglobulin level	0/20
HP: 0010785	Gonadal neoplasm	0/20
HP: 0010787	Genital neoplasm	0/20
HP: 0010974	Abnormal myeloid leukocyte morphology	0/20
HP: 0010978	Abnormality of immune system physiology	0/20
HP: 0010987	Abnormal cellular immune system morphology	0/20
HP: 0011004	Abnormal systemic arterial morphology	0/20
HP: 0011017	Abnormal cellular physiology	0/20
HP: 0011024	Abnormality of the gastrointestinal tract	0/20
HP: 0011025	Abnormal cardiovascular system physiology	0/20
HP: 0011028	Abnormality of blood circulation	0/20
HP: 0011029	Internal hemorrhage	0/20
HP: 0011032	Abnormality of fluid regulation	0/20
HP: 0011104	Abnormality of blood volume homeostasis	0/20
HP: 0011105	Hypervolemia	0/20
HP: 0011121	Abnormality of skin morphology	0/20
HP: 0011138	Abnormality of skin adnexa morphology	0/20
HP: 0011282	Abnormality of hindbrain morphology	0/20
HP: 0011283	Abnormality of the metencephalon	0/20
HP: 0011355	Localized skin lesion	0/20
HP: 0011367	Yellow nails	0/20
HP: 0011442	Abnormal central motor function	0/20
HP: 0011545	Abnormal connection of the cardiac segments	0/20
HP: 0011563	Abnormal ventriculoarterial connection	0/20
HP: 0011603	Congenital malformation of the great arteries	0/20
HP: 0011793	Neoplasm by anatomical site	0/20
HP: 0011804	Abnormal muscle physiology	0/20
HP: 0011805	Abnormal skeletal muscle morphology	0/20
HP: 0011842	Abnormality of skeletal morphology	0/20
HP: 0011893	Abnormal leukocyte count	0/20
HP: 0011945	Bronchiolitis obliterans organizing pneumonia	0/20
HP: 0011946	Bronchiolitis obliterans	0/20
HP: 0011947	Respiratory tract infection	0/20
HP: 0011951	Aspiration pneumonia	0/20
HP: 0012050	Anasarca	0/20
HP: 0012144	Abnormality monocyte morphology	0/20
HP: 0012196	Cheyne-Stokes respiration	0/20
HP: 0012240	Increased intramyocellular lipid droplets	0/20
HP: 0012243	Abnormal reproductive system morphology	0/20
HP: 0012252	Abnormal respiratory system morphology	0/20
HP: 0012310	Abnormal monocyte count	0/20
HP: 0012312	Monocytopenia	0/20
HP: 0012337	Abnormal homeostasis	0/20
HP: 0012387	Bronchitis	0/20
HP: 0012388	Acute bronchitis	0/20
HP: 0012415	Abnormal blood gas level	0/20
HP: 0012416	Hypercapnia	0/20
HP: 0012443	Abnormality of brain 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: 0012718	Morphological abnormality of the gastrointestinal tract	0/20
HP: 0025015	Abnormal vascular morphology	0/20
HP: 0025031	Abnormality of the digestive system	0/20
HP: 0025033	Abnormality of digestive system morphology	0/20
HP: 0025095	Sneeze	0/20
HP: 0025096	Paroxysmal sneezing	0/20
HP: 0025116	Fetal distress	0/20
HP: 0025175	Honeycomb lung	0/20
HP: 0025318	Ovarian carcinoma	0/20
HP: 0025354	Abnormal cellular phenotype	0/20
HP: 0025420	Diffuse alveolar hemorrhage	0/20
HP: 0025421	Pneumomediastinum	0/20
HP: 0025426	Abnormal bronchus morphology	0/20
HP: 0025508	Gottron's papules	0/20
HP: 0030163	Abnormal vascular physiology	0/20
HP: 0030406	Primary peritoneal carcinoma	0/20
HP: 0030680	Abnormality of cardiovascular system morphology	0/20
HP: 0030829	Abnormal breath sound	0/20
HP: 0030875	Abnormality of pulmonary circulation	0/20
HP: 0030878	Abnormality on pulmonary function testing	0/20
HP: 0030962	Abnormal morphology of the great vessels	0/20
HP: 0030966	Abnormal pulmonary artery morphology	0/20
HP: 0031225	Intrapulmonary shunt	0/20
HP: 0031409	Abnormal lymphocyte physiology	0/20
HP: 0031653	Abnormal heart valve physiology	0/20
HP: 0031654	Abnormal pulmonary valve physiology	0/20
HP: 0031842	Lymphangiectasis	0/20
HP: 0031944	Pleural thickening	0/20
HP: 0031950	Usual interstitial pneumonia	0/20
HP: 0032000	Pleural rub	0/20
HP: 0032251	Abnormal immune system morphology	0/20
HP: 0032340	Abnormal spirometry test	0/20
HP: 0032342	Reduced forced expiratory volume in one second	0/20
HP: 0032445	Pulmonary cyst	0/20
HP: 0040064	Abnormality of limbs	0/20
HP: 0040223	Pulmonary hemorrhage	0/20
HP: 0045026	Abnormality of the mediastinum	0/20
HP: 0045027	Abnormality of the thoracic cavity	0/20
HP: 0045049	Abnormal DLCO	0/20
HP: 0045051	Decreased DLCO	0/20
HP: 0100526	Neoplasm of the lung	0/20
HP: 0100527	Neoplasia of the pleura	0/20
HP: 0100528	Pleuropulmonary blastoma	0/20
HP: 0100552	Neoplasm of the tracheobronchial system	0/20
HP: 0100598	Pulmonary edema	0/20
HP: 0100606	Neoplasm of the respiratory system	0/20
HP: 0100615	Ovarian neoplasm	0/20
HP: 0100643	Abnormality of nail color	0/20
HP: 0100742	Vascular neoplasm	0/20
HP: 0100750	Atelectasis	0/20
HP: 0100763	Abnormality of the lymphatic system	0/20
HP: 0100766	Abnormal lymphatic vessel morphology	0/20
HP: 0200034	Papule	0/20
HP: 0410240	Abnormal IgA level	0/20
HP: 0500164	Abnormal blood carbon dioxide level	0/20

Name

Top Correlation

HP: 0000008

Abnormal morphology of female internal genitalia

0/20

HP: 0000078

Abnormality of the genital system

0/20

HP: 0000118

Phenotypic abnormality

0/20

HP: 0000119