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Top SNP Information Show Table

Associated Phenotypes ^ⓘ Shared SNP phenotypes No shared SNP phenotypes

ID	Name	Top Correlation
HP: 0000014	Abnormality of the bladder	7/20
HP: 0000078	Abnormality of the genital system	1/20
HP: 0000079	Abnormality of the urinary system	2/20
HP: 0000118	Phenotypic abnormality	3/20
HP: 0000119	Abnormality of the genitourinary system	2/20
HP: 0000152	Abnormality of head or neck	2/20
HP: 0000234	Abnormality of the head	2/20
HP: 0000356	Abnormality of the outer ear	7/20
HP: 0000363	Abnormality of earlobe	7/20
HP: 0000377	Abnormality of the pinna	7/20
HP: 0000387	Absent earlobe	12/20
HP: 0000502	Abnormal conjunctiva morphology	3/20
HP: 0000598	Abnormality of the ear	6/20
HP: 0000632	Lacrimation abnormality	3/20
HP: 0000707	Abnormality of the nervous system	1/20
HP: 0000775	Abnormality of the diaphragm	9/20
HP: 0000776	Congenital diaphragmatic hernia	9/20
HP: 0000924	Abnormality of the skeletal system	2/20
HP: 0001626	Abnormality of the cardiovascular system	1/20
HP: 0001892	Abnormal bleeding	2/20
HP: 0002013	Vomiting	5/20
HP: 0002014	Diarrhea	11/20
HP: 0002017	Nausea and vomiting	5/20
HP: 0002034	Abnormality of the rectum	9/20
HP: 0002035	Rectal prolapse	6/20
HP: 0002037	Inflammation of the large intestine	1/20
HP: 0002086	Abnormality of the respiratory system	2/20
HP: 0002088	Abnormal lung morphology	2/20
HP: 0002239	Gastrointestinal hemorrhage	11/20
HP: 0002242	Abnormal intestine morphology	4/20
HP: 0002250	Abnormal large intestine morphology	8/20
HP: 0002253	Colonic diverticula	6/20
HP: 0002566	Intestinal malrotation	2/20
HP: 0002573	Hematochezia	11/20
HP: 0002580	Volvulus	13/20
HP: 0002589	Gastrointestinal atresia	4/20
HP: 0002597	Abnormality of the vasculature	1/20
HP: 0002607	Bowel incontinence	5/20
HP: 0002664	Neoplasm	3/20
HP: 0002672	Gastrointestinal carcinoma	6/20
HP: 0002715	Abnormality of the immune system	1/20
HP: 0002733	Abnormality of the lymph nodes	1/20
HP: 0002860	Squamous cell carcinoma	6/20
HP: 0002898	Embryonal neoplasm	5/20
HP: 0003003	Colon cancer	11/20
HP: 0003011	Abnormality of the musculature	1/20
HP: 0003422	Vertebral segmentation defect	4/20
HP: 0003549	Abnormality of connective tissue	7/20
HP: 0004298	Abnormality of the abdominal wall	4/20
HP: 0004299	Hernia of the abdominal wall	4/20
HP: 0004321	Bladder fistula	9/20
HP: 0004386	Gastrointestinal inflammation	4/20
HP: 0004797	Multiple small bowel atresias	4/20
HP: 0005211	Midgut malrotation	2/20
HP: 0005222	Bowel diverticulosis	6/20
HP: 0005223	Duplicated colon	4/20
HP: 0005245	Intestinal hypoplasia	3/20
HP: 0006749	Malignant gastrointestinal tract tumors	6/20
HP: 0007378	Neoplasm of the gastrointestinal tract	7/20
HP: 0007379	Neoplasm of the genitourinary tract	3/20
HP: 0008069	Neoplasm of the skin	2/20
HP: 0008490	Sacral segmentation defect	1/20
HP: 0009131	Abnormality of the musculature of the thorax	9/20
HP: 0009792	Teratoma	4/20
HP: 0009906	Aplasia/Hypoplasia of the earlobes	12/20
HP: 0010447	Anal fistula	2/20
HP: 0010448	Colonic atresia	4/20
HP: 0010478	Abnormality of the urachus	13/20
HP: 0010787	Genital neoplasm	6/20
HP: 0010866	Abdominal wall defect	4/20
HP: 0010936	Abnormality of the lower urinary tract	7/20
HP: 0010978	Abnormality of immune system physiology	2/20
HP: 0011024	Abnormality of the gastrointestinal tract	5/20
HP: 0011028	Abnormality of blood circulation	4/20
HP: 0011029	Internal hemorrhage	4/20
HP: 0011100	Intestinal atresia	4/20
HP: 0011121	Abnormality of skin morphology	4/20
HP: 0011140	Gastrointestinal duplication	4/20
HP: 0011276	Vascular skin abnormality	4/20
HP: 0011354	Generalized abnormality of skin	1/20
HP: 0011792	Neoplasm by histology	1/20
HP: 0011793	Neoplasm by anatomical site	3/20
HP: 0011805	Abnormal skeletal muscle morphology	2/20
HP: 0011842	Abnormality of skeletal morphology	2/20
HP: 0011951	Aspiration pneumonia	1/20
HP: 0011952	Acute aspiration pneumonia	3/20
HP: 0012252	Abnormal respiratory system morphology	2/20
HP: 0012425	Stercoral ulcer	12/20
HP: 0012531	Pain	1/20
HP: 0012550	Colonic varices	5/20
HP: 0012639	Abnormal nervous system morphology	1/20
HP: 0012647	Abnormal inflammatory response	2/20
HP: 0012649	Increased inflammatory response	2/20
HP: 0012702	Tenesmus	8/20
HP: 0012718	Morphological abnormality of the gastrointestinal tract	3/20
HP: 0012719	Functional abnormality of the gastrointestinal tract	5/20
HP: 0012732	Anorectal anomaly	8/20
HP: 0012851	Colonic stenosis	8/20
HP: 0025032	Abnormality of digestive system physiology	1/20
HP: 0025085	Bloody diarrhea	11/20
HP: 0025142	Constitutional symptom	2/20
HP: 0025194	Morgagni diaphragmatic hernia	4/20
HP: 0025487	Abnormality of bladder morphology	8/20
HP: 0030947	Conjunctival follicles	2/20
HP: 0031368	Intestinal perforation	14/20
HP: 0031369	Colon perforation	12/20
HP: 0031371	Rectal perforation	7/20
HP: 0031492	Epithelial neoplasm	3/20
HP: 0031493	Glandular cell neoplasm	3/20
HP: 0031495	Mucinous neoplasm	3/20
HP: 0031499	Appendiceal mucinous neoplasm	2/20
HP: 0031703	Abnormal ear morphology	5/20
HP: 0031813	Colonic eosinophilia	7/20
HP: 0031828	Abnormal superficial reflex	2/20
HP: 0032064	Gastrointestinal eosinophilia	2/20
HP: 0032551	Hemorrhoids	8/20
HP: 0040273	Adenocarcinoma of the intestines	5/20
HP: 0040275	Adenocarcinoma of the large intestine	9/20
HP: 0040276	Adenocarcinoma of the colon	13/20
HP: 0100022	Abnormality of movement	2/20
HP: 0100273	Neoplasm of the colon	10/20
HP: 0100274	Gustatory lacrimation	4/20
HP: 0100525	Urachus fistula	13/20
HP: 0100541	Femoral hernia	6/20
HP: 0100568	Neoplasm of the endocrine system	6/20
HP: 0100570	Carcinoid tumor	3/20
HP: 0100589	Urogenital fistula	5/20
HP: 0100590	Rectal fistula	3/20
HP: 0100634	Neuroendocrine neoplasm	3/20
HP: 0100668	Intestinal duplication	4/20
HP: 0100728	Germ cell neoplasia	2/20
HP: 0100790	Hernia	8/20
HP: 0100811	Aplasia/Hypoplasia of the colon	2/20
HP: 0100819	Intestinal fistula	1/20
HP: 0100834	Neoplasm of the large intestine	8/20
HP: 0500005	Anal pain	3/20
HP: 0500027	Aplastic colon	3/20
HP: 0500039	Conjunctival cicatrization	1/20
HP: 0500040	Dermolipoma of the conjunctiva	3/20

ID	Name	Top Correlation
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: 0000708	Behavioral abnormality	0/20
HP: 0000759	Abnormal peripheral nervous system morphology	0/20
HP: 0000925	Abnormality of the vertebral column	0/20
HP: 0000951	Abnormality of the skin	0/20
HP: 0001574	Abnormality of the integument	0/20
HP: 0001871	Abnormality of blood and blood-forming tissues	0/20
HP: 0001933	Subcutaneous hemorrhage	0/20
HP: 0002012	Abnormality of the abdominal organs	0/20
HP: 0002019	Constipation	0/20
HP: 0002090	Pneumonia	0/20
HP: 0002270	Abnormality of the autonomic nervous system	0/20
HP: 0002576	Intussusception	0/20
HP: 0003468	Abnormal vertebral morphology	0/20
HP: 0004362	Abnormality of enteric ganglion morphology	0/20
HP: 0004375	Neoplasm of the nervous system	0/20
HP: 0004378	Abnormality of the anus	0/20
HP: 0004785	Malrotation of colon	0/20
HP: 0005107	Abnormal sacrum morphology	0/20
HP: 0007420	Spontaneous hematomas	0/20
HP: 0009121	Abnormal axial skeleton morphology	0/20
HP: 0009790	Hemisacrum	0/20
HP: 0009793	Presacral teratoma	0/20
HP: 0010785	Gonadal neoplasm	0/20
HP: 0011025	Abnormal cardiovascular system physiology	0/20
HP: 0011458	Abdominal symptom	0/20
HP: 0011947	Respiratory tract infection	0/20
HP: 0012331	Abnormal autonomic nervous system morphology	0/20
HP: 0012373	Abnormal eye physiology	0/20
HP: 0012450	Chronic constipation	0/20
HP: 0012638	Abnormal nervous system physiology	0/20
HP: 0012700	Abnormal large intestine physiology	0/20
HP: 0025028	Abnormality of enteric nervous system morphology	0/20
HP: 0025031	Abnormality of the digestive system	0/20
HP: 0025033	Abnormality of digestive system morphology	0/20
HP: 0025042	Abnormality of mesenteric lymph nodes	0/20
HP: 0025043	Enlarged mesenteric lymph node	0/20
HP: 0025086	Bloody mucoid diarrhea	0/20
HP: 0025089	Feculent vomiting	0/20
HP: 0025150	Hypoganglionosis	0/20
HP: 0030669	Abnormal ocular adnexa morphology	0/20
HP: 0030736	Sacrococcygeal teratoma	0/20
HP: 0031058	Impairment of activities of daily living	0/20
HP: 0031064	Impaired continence	0/20
HP: 0031494	Ovarian mucinous tumor	0/20
HP: 0031826	Abnormal reflex	0/20
HP: 0031829	Absent cremaster reflex	0/20
HP: 0031910	Abnormal cranial nerve physiology	0/20
HP: 0032039	Abnormality of the ocular adnexa	0/20
HP: 0100007	Neoplasm of the peripheral nervous system	0/20
HP: 0100763	Abnormality of the lymphatic system	0/20
HP: 0410008	Abnormality of the peripheral nervous system	0/20