J00

Case	Control
514	459680

Case

Control

514

459680

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds Ratio
chr18:20034338	rs60703390	-	A>G	45	19218	25.2	5.171e-07	2.112
chr13:31599458	rs9595878	-	G>A	54	25127	23.49	1.253e-06	1.944
chr5:5761462	rs78698686	-	G>A	30	11392	22.87	1.732e-06	2.362
chr22:37756431	rs77946771	-	T>C	43	18961	21.92	2.839e-06	2.042
chr14:81320694	rs76253342	CEP128	T>C	47	21358	21.89	2.884e-06	1.983
chr16:81590181	rs4254321	CMIP	A>C	29	11076	21.82	2.997e-06	2.349
chr14:81297440	rs151108047	CEP128	GAT>G	47	21612	21.55	3.441e-06	1.973
chr4:158955036	rs116279401	-	C>T	70	36120	21.5	3.529e-06	1.761
chr1:74442698	rs7555147	-	T>C	66	34136	20.06	7.515e-06	1.755
chr7:138636307	rs2718142	KIAA1549	A>G	271	187779	19.88	8.239e-06	1.365
chr6:84722195	rs13194787	-	C>A	195	128235	19.73	8.911e-06	1.418
chr13:69258275	rs1020498	-	C>T	31	12533	19.66	9.25e-06	2.2
chr14:93487673	rs7401136	ITPK1	C>T	27	10501	19.33	1.098e-05	2.301
chr12:69090684	rs35054844	NUP107	A>G	49	23568	19.12	1.228e-05	1.876
chr3:26258075	rs7430815	-	G>A	59	29948	19.1	1.241e-05	1.781
chr8:141050431	rs117904148	TRAPPC9	C>T	60	30669	18.95	1.345e-05	1.769
chr2:54067274	rs74181222	ASB3	C>G	88	49769	18.88	1.396e-05	1.614
chr5:116970649	rs397925	-	G>C	298	323230	18.85	1.414e-05	0.7456
chr11:59531848	rs56122249	STX3	T>C	199	132352	18.67	1.553e-05	1.401
chr3:68852747	rs114389312	TAFA4	T>C	40	18185	18.63	1.584e-05	1.979

Associated Phenotypes ^ⓘ

ID	Name	Top Correlation
HP: 0007258	Severe demyelination of the white matter	1/20
HP: 0012904	Cold-sensitive myotonia	13/20
HP: 0025278	Cold-induced sweating	18/20
HP: 0031366	Palate neoplasm	9/20
HP: 0031484	Cold-induced hemolysis	18/20
HP: 0040321	Dark yellow urine	12/20

Name

Top Correlation

HP: 0007258

Severe demyelination of the white matter

1/20

HP: 0012904

Cold-sensitive myotonia

13/20

HP: 0025278

Cold-induced sweating

18/20

HP: 0031366

Palate neoplasm

9/20

HP: 0031484

Cold-induced hemolysis

18/20

HP: 0040321

Dark yellow urine

12/20

ID	Name	Top Correlation
HP: 0000079	Abnormality of the urinary system	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: 0000153	Abnormality of the mouth	0/20
HP: 0000163	Abnormal oral cavity morphology	0/20
HP: 0000234	Abnormality of the head	0/20
HP: 0000245	Abnormality of the paranasal sinuses	0/20
HP: 0000246	Sinusitis	0/20
HP: 0000255	Acute sinusitis	0/20
HP: 0000264	Abnormality of the mastoid	0/20
HP: 0000265	Mastoiditis	0/20
HP: 0000271	Abnormality of the face	0/20
HP: 0000282	Facial edema	0/20
HP: 0000315	Abnormality of the orbital region	0/20
HP: 0000366	Abnormality of the nose	0/20
HP: 0000370	Abnormality of the middle ear	0/20
HP: 0000371	Acute otitis media	0/20
HP: 0000388	Otitis media	0/20
HP: 0000419	Abnormality of the nasal septum	0/20
HP: 0000433	Abnormality of the nasal mucosa	0/20
HP: 0000478	Abnormality of the eye	0/20
HP: 0000492	Abnormal eyelid morphology	0/20
HP: 0000496	Abnormality of eye movement	0/20
HP: 0000504	Abnormality of vision	0/20
HP: 0000505	Visual impairment	0/20
HP: 0000520	Proptosis	0/20
HP: 0000575	Scotoma	0/20
HP: 0000587	Abnormality of the optic nerve	0/20
HP: 0000597	Ophthalmoparesis	0/20
HP: 0000598	Abnormality of the ear	0/20
HP: 0000600	Abnormality of the pharynx	0/20
HP: 0000602	Ophthalmoplegia	0/20
HP: 0000606	Abnormality of the periorbital region	0/20
HP: 0000707	Abnormality of the nervous system	0/20
HP: 0000708	Behavioral abnormality	0/20
HP: 0000759	Abnormal peripheral nervous system morphology	0/20
HP: 0000853	Goiter	0/20
HP: 0000866	Euthyroid multinodular goiter	0/20
HP: 0000924	Abnormality of the skeletal system	0/20
HP: 0000929	Abnormal skull morphology	0/20
HP: 0000951	Abnormality of the skin	0/20
HP: 0000961	Cyanosis	0/20
HP: 0000969	Edema	0/20
HP: 0001005	Dermatological manifestations of systemic disorders	0/20
HP: 0001025	Urticaria	0/20
HP: 0001063	Acrocyanosis	0/20
HP: 0001098	Abnormal fundus morphology	0/20
HP: 0001123	Visual field defect	0/20
HP: 0001367	Abnormal joint morphology	0/20
HP: 0001574	Abnormality of the integument	0/20
HP: 0001600	Abnormality of the larynx	0/20
HP: 0001601	Laryngomalacia	0/20
HP: 0001602	Laryngeal stenosis	0/20
HP: 0001607	Subglottic stenosis	0/20
HP: 0001608	Abnormality of the voice	0/20
HP: 0001618	Dysphonia	0/20
HP: 0001626	Abnormality of the cardiovascular system	0/20
HP: 0001627	Abnormal heart morphology	0/20
HP: 0001697	Abnormal pericardium morphology	0/20
HP: 0001698	Pericardial effusion	0/20
HP: 0001739	Abnormality of the nasopharynx	0/20
HP: 0001871	Abnormality of blood and blood-forming tissues	0/20
HP: 0001877	Abnormal erythrocyte morphology	0/20
HP: 0001878	Hemolytic anemia	0/20
HP: 0001881	Abnormal leukocyte morphology	0/20
HP: 0001882	Leukopenia	0/20
HP: 0001892	Abnormal bleeding	0/20
HP: 0001903	Anemia	0/20
HP: 0001911	Abnormal granulocyte morphology	0/20
HP: 0001913	Granulocytopenia	0/20
HP: 0001939	Abnormality of metabolism/homeostasis	0/20
HP: 0001974	Leukocytosis	0/20
HP: 0001999	Abnormal facial shape	0/20
HP: 0002011	Morphological central nervous system abnormality	0/20
HP: 0002012	Abnormality of the abdominal organs	0/20
HP: 0002031	Abnormal esophagus morphology	0/20
HP: 0002060	Abnormal cerebral morphology	0/20
HP: 0002084	Encephalocele	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: 0002091	Restrictive ventilatory defect	0/20
HP: 0002093	Respiratory insufficiency	0/20
HP: 0002094	Dyspnea	0/20
HP: 0002098	Respiratory distress	0/20
HP: 0002103	Abnormality of the pleura	0/20
HP: 0002111	Restrictive deficit on pulmonary function testing	0/20
HP: 0002167	Neurological speech impairment	0/20
HP: 0002205	Recurrent respiratory infections	0/20
HP: 0002257	Chronic rhinitis	0/20
HP: 0002301	Hemiplegia	0/20
HP: 0002486	Myotonia	0/20
HP: 0002493	Upper motor neuron dysfunction	0/20
HP: 0002538	Abnormality of the cerebral cortex	0/20
HP: 0002597	Abnormality of the vasculature	0/20
HP: 0002664	Neoplasm	0/20
HP: 0002715	Abnormality of the immune system	0/20
HP: 0002718	Recurrent bacterial infections	0/20
HP: 0002719	Recurrent infections	0/20
HP: 0002721	Immunodeficiency	0/20
HP: 0002754	Osteomyelitis	0/20
HP: 0002777	Tracheal stenosis	0/20
HP: 0002778	Abnormal trachea morphology	0/20
HP: 0002781	Upper airway obstruction	0/20
HP: 0002788	Recurrent upper respiratory tract infections	0/20
HP: 0002795	Functional respiratory abnormality	0/20
HP: 0002843	Abnormal T cell morphology	0/20
HP: 0002846	Abnormal B cell morphology	0/20
HP: 0002921	Abnormality of the cerebrospinal fluid	0/20
HP: 0003011	Abnormality of the musculature	0/20
HP: 0003040	Arthropathy	0/20
HP: 0003110	Abnormality of urine homeostasis	0/20
HP: 0003115	Abnormal EKG	0/20
HP: 0003549	Abnormality of connective tissue	0/20
HP: 0004313	Decreased antibody level in blood	0/20
HP: 0004329	Abnormal posterior eye segment morphology	0/20
HP: 0004332	Abnormal lymphocyte morphology	0/20
HP: 0004374	Hemiplegia/hemiparesis	0/20
HP: 0004411	Deviated nasal septum	0/20
HP: 0004469	Chronic bronchitis	0/20
HP: 0004894	Laryngotracheal stenosis	0/20
HP: 0005135	Abnormal T-wave	0/20
HP: 0005195	Polyarticular arthropathy	0/20
HP: 0005348	Inspiratory stridor	0/20
HP: 0005368	Abnormality of humoral immunity	0/20
HP: 0005372	Abnormality of B cell physiology	0/20
HP: 0005390	Recurrent opportunistic infections	0/20
HP: 0005607	Abnormal tracheobronchial morphology	0/20
HP: 0005764	Polyarticular arthritis	0/20
HP: 0005945	Laryngeal obstruction	0/20
HP: 0005950	Laryngeal web	0/20
HP: 0005957	Breathing dysregulation	0/20
HP: 0006510	Chronic obstructive pulmonary disease	0/20
HP: 0006511	Laryngeal stridor	0/20
HP: 0006536	Obstructive lung disease	0/20
HP: 0006888	Meningoencephalocele	0/20
HP: 0007305	CNS demyelination	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: 0009798	Euthyroid goiter	0/20
HP: 0010307	Stridor	0/20
HP: 0010549	Weakness due to upper motor neuron dysfunction	0/20
HP: 0010701	Abnormal immunoglobulin level	0/20
HP: 0010872	T-wave inversion	0/20
HP: 0010937	Abnormality of the nasal skeleton	0/20
HP: 0010938	Abnormality of the external nose	0/20
HP: 0010974	Abnormal myeloid leukocyte morphology	0/20
HP: 0010975	Abnormal B cell count	0/20
HP: 0010978	Abnormality of immune system physiology	0/20
HP: 0010987	Abnormal cellular immune system 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: 0011108	Recurrent sinusitis	0/20
HP: 0011109	Chronic sinusitis	0/20
HP: 0011110	Tonsillitis	0/20
HP: 0011121	Abnormality of skin morphology	0/20
HP: 0011276	Vascular skin abnormality	0/20
HP: 0011277	Abnormality of the urinary system physiology	0/20
HP: 0011354	Generalized abnormality of skin	0/20
HP: 0011400	Abnormal CNS myelination	0/20
HP: 0011442	Abnormal central motor function	0/20
HP: 0011446	Abnormality of higher mental function	0/20
HP: 0011450	Unusual CNS infection	0/20
HP: 0011459	Esophageal carcinoma	0/20
HP: 0011772	Abnormality of thyroid morphology	0/20
HP: 0011793	Neoplasm by anatomical site	0/20
HP: 0011799	Abnormality of facial soft tissue	0/20
HP: 0011804	Abnormal muscle physiology	0/20
HP: 0011805	Abnormal skeletal muscle morphology	0/20
HP: 0011815	Cephalocele	0/20
HP: 0011821	Abnormality of facial skeleton	0/20
HP: 0011839	Abnormal T cell count	0/20
HP: 0011842	Abnormality of skeletal morphology	0/20
HP: 0011843	Abnormality of skeletal physiology	0/20
HP: 0011853	Serous pericardial effusion	0/20
HP: 0011855	Pharyngeal edema	0/20
HP: 0011893	Abnormal leukocyte count	0/20
HP: 0011895	Anemia due to reduced life span of red cells	0/20
HP: 0011947	Respiratory tract infection	0/20
HP: 0011948	Recurrent acute respiratory tract infection	0/20
HP: 0011950	Bronchiolitis	0/20
HP: 0012086	Abnormal urinary color	0/20
HP: 0012130	Abnormal erythroid lineage cell morphology	0/20
HP: 0012151	Hemothorax	0/20
HP: 0012252	Abnormal respiratory system morphology	0/20
HP: 0012288	Neoplasm of head and neck	0/20
HP: 0012337	Abnormal homeostasis	0/20
HP: 0012372	Abnormal eye morphology	0/20
HP: 0012373	Abnormal eye physiology	0/20
HP: 0012384	Rhinitis	0/20
HP: 0012387	Bronchitis	0/20
HP: 0012388	Acute bronchitis	0/20
HP: 0012443	Abnormality of brain morphology	0/20
HP: 0012447	Abnormal myelination	0/20
HP: 0012475	Decreased circulating level of specific antibody	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: 0012719	Functional abnormality of the gastrointestinal tract	0/20
HP: 0020047	Abnormal myeloid cell morphology	0/20
HP: 0020096	Recurrent streptococcal infections	0/20
HP: 0025031	Abnormality of the digestive system	0/20
HP: 0025032	Abnormality of digestive system physiology	0/20
HP: 0025033	Abnormality of digestive system morphology	0/20
HP: 0025095	Sneeze	0/20
HP: 0025142	Constitutional symptom	0/20
HP: 0025144	Shivering	0/20
HP: 0025276	Abnormality of skin adnexa physiology	0/20
HP: 0025354	Abnormal cellular phenotype	0/20
HP: 0025423	Abnormal larynx morphology	0/20
HP: 0025424	Abnormal larynx physiology	0/20
HP: 0025439	Pharyngitis	0/20
HP: 0025540	Abnormal T cell subset distribution	0/20
HP: 0025615	Abscess	0/20
HP: 0030049	Brain abscess	0/20
HP: 0030669	Abnormal ocular adnexa morphology	0/20
HP: 0030680	Abnormality of cardiovascular system morphology	0/20
HP: 0030812	Enlarged tonsils	0/20
HP: 0030829	Abnormal breath sound	0/20
HP: 0030863	Nasal flaring	0/20
HP: 0030878	Abnormality on pulmonary function testing	0/20
HP: 0030956	Abnormality of cardiovascular system electrophysiology	0/20
HP: 0030998	Cerebrospinal fluid rhinorrhoea	0/20
HP: 0031002	Neuritis	0/20
HP: 0031071	Abnormal endocrine morphology	0/20
HP: 0031394	Abnormal CD4:CD8 ratio	0/20
HP: 0031404	Impaired antigen-specific response	0/20
HP: 0031409	Abnormal lymphocyte physiology	0/20
HP: 0031416	Abnormal nasal mucus secretion	0/20
HP: 0031417	Rhinorrhea	0/20
HP: 0031458	Adenoiditis	0/20
HP: 0031690	Opportunistic infection	0/20
HP: 0031703	Abnormal ear morphology	0/20
HP: 0031816	Abnormal oral morphology	0/20
HP: 0032039	Abnormality of the ocular adnexa	0/20
HP: 0032043	Odynophagia	0/20
HP: 0032101	Unusual infection	0/20
HP: 0032158	Unusual infection by anatomical site	0/20
HP: 0032169	Severe infection	0/20
HP: 0032251	Abnormal immune system morphology	0/20
HP: 0032309	Abnormal granulocyte count	0/20
HP: 0032340	Abnormal spirometry test	0/20
HP: 0040088	Abnormal lymphocyte count	0/20
HP: 0040223	Pulmonary hemorrhage	0/20
HP: 0040293	Right hemiplegia	0/20
HP: 0040334	Purulent rhinitis	0/20
HP: 0100539	Periorbital edema	0/20
HP: 0100540	Palpebral edema	0/20
HP: 0100547	Abnormality of forebrain morphology	0/20
HP: 0100582	Nasal polyposis	0/20
HP: 0100640	Laryngeal cyst	0/20
HP: 0100649	Neoplasm of the oral cavity	0/20
HP: 0100653	Optic neuritis	0/20
HP: 0100658	Cellulitis	0/20
HP: 0100751	Esophageal neoplasm	0/20
HP: 0100763	Abnormality of the lymphatic system	0/20
HP: 0100765	Abnormality of the tonsils	0/20
HP: 0100776	Recurrent pharyngitis	0/20
HP: 0100827	Lymphocytosis	0/20
HP: 0100886	Abnormality of globe location	0/20
HP: 0410134	Physical urticaria	0/20
HP: 0410135	Cold urticaria	0/20
HP: 0500015	Abnormal cardiac test	0/20
HP: 0500043	Eyelid retraction	0/20
HP: 3000033	Abnormality of nasopharyngeal adenoids	0/20

Name

Top Correlation

HP: 0000079

Abnormality of the urinary system

0/20

HP: 0000118

Phenotypic abnormality

0/20

HP: 0000119

Abnormality of the genitourinary system

0/20

HP: 0000152