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ICD-10
HPO
Compare GWAS
Super Class
Malignant neoplasms of digestive organs
Sub Class
Caecum
Appendix
Ascending colon
Hepatic flexure
Transverse colon
Splenic flexure
Descending colon
Sigmoid colon
Colon, unspecified
Malignant neoplasm of colon
C18
Case/Control GWAS
ⓘ
Links
Sex Split
Interactive Plot
Statistics
Case
Control
4020
456174
Top SNP Information
Show Table
Location
SNP
Gene
Ref>Alt
Alt in Case
Alt in Control
Chi-square
P-value
Odds Ratio
chr8:128424792
rs7014346
POU5F1B
G>A
3399
359298
43.05
5.344e-11
1.158
chr8:128413305
rs6983267
POU5F1B
G>T
3679
459425
41.97
9.269e-11
0.8666
chr8:128407443
rs10505477
POU5F1B
A>G
3769
469383
39.81
2.8e-10
0.87
chr18:46453463
rs4939827
SMAD7
T>C
3792
472326
38.8
4.705e-10
0.8715
chr1:222192964
rs17442323
-
A>C
1777
181779
32.69
1.081e-08
1.166
chr1:222164948
rs6687758
-
A>G
1809
186129
30.19
3.915e-08
1.158
chr5:33951693
rs16891982
SLC45A2
G>C
450
66611
29.66
5.137e-08
0.7679
chr5:98681460
rs2968333
-
C>T
3580
442477
29.22
6.461e-08
0.8869
chr8:128428638
Affx-31548678
POU5F1B
G>A
3133
390280
28.56
9.099e-08
0.8855
chr8:117630683
rs16892766
-
A>C
807
77893
28.24
1.072e-07
1.218
chr5:40265904
rs1348612
-
A>G
2556
270258
27.83
1.322e-07
1.134
chr5:131805735
rs2706379
AC116366.3
C>T
1445
189164
27.83
1.325e-07
0.8581
chr5:131801726
rs2522056
AC116366.3
G>A
1442
188504
27.19
1.847e-07
0.8595
chr6:154306533
rs62434440
-
C>T
1005
99468
26.62
2.48e-07
1.19
chr15:67402528
rs62006018
SMAD3
T>C
2572
321554
26.6
2.501e-07
0.8839
chr5:131744574
rs1016988
-
T>C
1444
188463
26.44
2.724e-07
0.8614
chr6:158856783
rs341112
TULP4
C>T
3008
321813
26.43
2.738e-07
1.125
chr5:98694849
rs6892901
-
A>C
3607
444573
26.29
2.937e-07
0.8924
chr14:32951556
rs1957032
AKAP6
C>T
3879
420264
25.94
3.524e-07
1.12
chr19:33517515
rs28626308
RHPN2
C>T
322
49013
25.75
3.878e-07
0.7495
chr8:128413305
rs6983267
POU5F1B
G>T
3563
439198
46.88
7.564e-12
0.8571
chr8:128424792
rs7014346
POU5F1B
G>A
3287
339704
45.93
1.226e-11
1.167
chr8:128407443
rs10505477
POU5F1B
A>G
3636
447396
45.41
1.598e-11
0.8592
chr18:46453463
rs4939827
SMAD7
T>C
3569
435109
32.45
1.226e-08
0.8792
chr1:222192964
rs17442323
-
A>C
1748
176139
30.69
3.02e-08
1.162
chr8:128428638
Affx-31548678
POU5F1B
G>A
3029
371467
29.79
4.824e-08
0.8811
chr1:222164948
rs6687758
-
A>G
1747
176322
29.65
5.172e-08
1.159
chr8:117630683
rs16892766
-
A>C
768
72344
28.71
8.385e-08
1.226
chr14:49074462
rs62009970
-
G>A
1085
106402
26.02
3.387e-07
1.182
chr17:76972231
rs11548454
LGALS3BP
G>A
202
16254
23.88
1.025e-06
1.417
chr8:128428795
Affx-31548681
POU5F1B
A>G
4195
451538
23.49
1.253e-06
1.115
chr8:117640315
rs11986063
-
C>T
824
79562
23.17
1.481e-06
1.194
chr5:160799789
rs76805041
GABRB2
T>C
193
15540
22.97
1.645e-06
1.419
chr9:33346197
rs72707417
NFX1
C>T
284
24327
22.9
1.709e-06
1.336
chr5:40139081
rs1366020
-
T>C
2311
241047
22.19
2.465e-06
1.124
chr12:4400808
rs3217874
AC008012.1
C>T
3716
397731
22.07
2.631e-06
1.111
chr15:67396497
rs56067504
SMAD3
T>G
778
103563
22.03
2.683e-06
0.8366
chr5:40265904
rs1348612
-
A>G
2501
262275
21.77
3.081e-06
1.12
chr12:44223083
rs11182291
-
T>G
211
17468
21.52
3.501e-06
1.383
chr12:51138862
rs1047912
DIP2B
C>T
2603
273521
21.19
4.167e-06
1.116
Associated Phenotypes
ⓘ
Shared SNP phenotypes
No shared SNP phenotypes
ID
Name
Top Correlation
HP: 0000014
Abnormality of the bladder
1/20
HP: 0000077
Abnormality of the kidney
1/20
HP: 0000118
Phenotypic abnormality
1/20
HP: 0000387
Absent earlobe
3/20
HP: 0000775
Abnormality of the diaphragm
1/20
HP: 0000776
Congenital diaphragmatic hernia
1/20
HP: 0002013
Vomiting
1/20
HP: 0002014
Diarrhea
1/20
HP: 0002017
Nausea and vomiting
1/20
HP: 0002034
Abnormality of the rectum
1/20
HP: 0002239
Gastrointestinal hemorrhage
1/20
HP: 0002242
Abnormal intestine morphology
1/20
HP: 0002250
Abnormal large intestine morphology
1/20
HP: 0002253
Colonic diverticula
1/20
HP: 0002566
Intestinal malrotation
5/20
HP: 0002573
Hematochezia
1/20
HP: 0002580
Volvulus
2/20
HP: 0002589
Gastrointestinal atresia
6/20
HP: 0002664
Neoplasm
1/20
HP: 0002672
Gastrointestinal carcinoma
1/20
HP: 0003003
Colon cancer
2/20
HP: 0003115
Abnormal EKG
1/20
HP: 0003549
Abnormality of connective tissue
1/20
HP: 0004298
Abnormality of the abdominal wall
1/20
HP: 0004299
Hernia of the abdominal wall
1/20
HP: 0004321
Bladder fistula
3/20
HP: 0004364
Abnormal circulating nitrogen compound concentration
1/20
HP: 0004797
Multiple small bowel atresias
4/20
HP: 0005211
Midgut malrotation
5/20
HP: 0005222
Bowel diverticulosis
1/20
HP: 0005223
Duplicated colon
5/20
HP: 0005245
Intestinal hypoplasia
7/20
HP: 0005266
Intestinal polyp
1/20
HP: 0006749
Malignant gastrointestinal tract tumors
1/20
HP: 0007378
Neoplasm of the gastrointestinal tract
1/20
HP: 0009131
Abnormality of the musculature of the thorax
1/20
HP: 0009906
Aplasia/Hypoplasia of the earlobes
3/20
HP: 0010448
Colonic atresia
4/20
HP: 0010478
Abnormality of the urachus
2/20
HP: 0010866
Abdominal wall defect
1/20
HP: 0010935
Abnormality of the upper urinary tract
1/20
HP: 0010936
Abnormality of the lower urinary tract
1/20
HP: 0011028
Abnormality of blood circulation
1/20
HP: 0011029
Internal hemorrhage
1/20
HP: 0011100
Intestinal atresia
5/20
HP: 0011140
Gastrointestinal duplication
6/20
HP: 0011793
Neoplasm by anatomical site
1/20
HP: 0011951
Aspiration pneumonia
6/20
HP: 0011952
Acute aspiration pneumonia
7/20
HP: 0012343
Decreased serum ferritin
1/20
HP: 0012425
Stercoral ulcer
3/20
HP: 0012550
Colonic varices
6/20
HP: 0012732
Anorectal anomaly
1/20
HP: 0012851
Colonic stenosis
5/20
HP: 0025085
Bloody diarrhea
1/20
HP: 0025194
Morgagni diaphragmatic hernia
3/20
HP: 0025487
Abnormality of bladder morphology
1/20
HP: 0030255
Large intestinal polyposis
2/20
HP: 0031368
Intestinal perforation
2/20
HP: 0031369
Colon perforation
2/20
HP: 0031492
Epithelial neoplasm
1/20
HP: 0031493
Glandular cell neoplasm
1/20
HP: 0031495
Mucinous neoplasm
1/20
HP: 0031499
Appendiceal mucinous neoplasm
1/20
HP: 0031813
Colonic eosinophilia
3/20
HP: 0032180
Abnormal circulating metabolite concentration
1/20
HP: 0040273
Adenocarcinoma of the intestines
1/20
HP: 0040275
Adenocarcinoma of the large intestine
2/20
HP: 0040276
Adenocarcinoma of the colon
2/20
HP: 0100273
Neoplasm of the colon
2/20
HP: 0100274
Gustatory lacrimation
3/20
HP: 0100525
Urachus fistula
2/20
HP: 0100541
Femoral hernia
1/20
HP: 0100568
Neoplasm of the endocrine system
1/20
HP: 0100570
Carcinoid tumor
1/20
HP: 0100574
Biliary tract neoplasm
1/20
HP: 0100575
Neoplasm of the gallbladder
1/20
HP: 0100589
Urogenital fistula
5/20
HP: 0100668
Intestinal duplication
5/20
HP: 0100743
Neoplasm of the rectum
2/20
HP: 0100790
Hernia
1/20
HP: 0100811
Aplasia/Hypoplasia of the colon
6/20
HP: 0100834
Neoplasm of the large intestine
2/20
HP: 0200008
Intestinal polyposis
1/20
HP: 0200063
Colorectal polyposis
2/20
HP: 0500015
Abnormal cardiac test
1/20
HP: 0500027
Aplastic colon
6/20
HP: 0500039
Conjunctival cicatrization
2/20
HP: 0500040
Dermolipoma of the conjunctiva
4/20
ID
Name
Top Correlation
HP: 0000079
Abnormality of the urinary system
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: 0000315
Abnormality of the orbital region
0/20
HP: 0000356
Abnormality of the outer ear
0/20
HP: 0000363
Abnormality of earlobe
0/20
HP: 0000377
Abnormality of the pinna
0/20
HP: 0000478
Abnormality of the eye
0/20
HP: 0000502
Abnormal conjunctiva morphology
0/20
HP: 0000598
Abnormality of the ear
0/20
HP: 0000632
Lacrimation abnormality
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: 0001028
Hemangioma
0/20
HP: 0001080
Biliary tract abnormality
0/20
HP: 0001392
Abnormality of the liver
0/20
HP: 0001626
Abnormality of the cardiovascular system
0/20
HP: 0001871
Abnormality of blood and blood-forming tissues
0/20
HP: 0001892
Abnormal bleeding
0/20
HP: 0001939
Abnormality of metabolism/homeostasis
0/20
HP: 0002012
Abnormality of the abdominal organs
0/20
HP: 0002037
Inflammation of the large intestine
0/20
HP: 0002086
Abnormality of the respiratory system
0/20
HP: 0002088
Abnormal lung morphology
0/20
HP: 0002090
Pneumonia
0/20
HP: 0002251
Aganglionic megacolon
0/20
HP: 0002270
Abnormality of the autonomic nervous system
0/20
HP: 0002576
Intussusception
0/20
HP: 0002597
Abnormality of the vasculature
0/20
HP: 0002715
Abnormality of the immune system
0/20
HP: 0002733
Abnormality of the lymph nodes
0/20
HP: 0003011
Abnormality of the musculature
0/20
HP: 0004297
Abnormality of the biliary system
0/20
HP: 0004362
Abnormality of enteric ganglion morphology
0/20
HP: 0004375
Neoplasm of the nervous system
0/20
HP: 0004386
Gastrointestinal inflammation
0/20
HP: 0004785
Malrotation of colon
0/20
HP: 0005264
Abnormality of the gallbladder
0/20
HP: 0007379
Neoplasm of the genitourinary tract
0/20
HP: 0009726
Renal neoplasm
0/20
HP: 0010786
Urinary tract neoplasm
0/20
HP: 0010876
Abnormal circulating protein level
0/20
HP: 0010978
Abnormality of immune system physiology
0/20
HP: 0011024
Abnormality of the gastrointestinal tract
0/20
HP: 0011025
Abnormal cardiovascular system physiology
0/20
HP: 0011286
Total colonic aganglionosis
0/20
HP: 0011458
Abdominal symptom
0/20
HP: 0011792
Neoplasm by histology
0/20
HP: 0011805
Abnormal skeletal muscle morphology
0/20
HP: 0011947
Respiratory tract infection
0/20
HP: 0012252
Abnormal respiratory system morphology
0/20
HP: 0012331
Abnormal autonomic nervous system morphology
0/20
HP: 0012373
Abnormal eye physiology
0/20
HP: 0012437
Abnormal gallbladder morphology
0/20
HP: 0012440
Abnormal biliary tract 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: 0012719
Functional abnormality of the gastrointestinal tract
0/20
HP: 0025028
Abnormality of enteric nervous system morphology
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: 0025042
Abnormality of mesenteric lymph nodes
0/20
HP: 0025043
Enlarged mesenteric lymph node
0/20
HP: 0025070
Abnormal U wave
0/20
HP: 0025072
Prominent U wave
0/20
HP: 0025089
Feculent vomiting
0/20
HP: 0030142
Abnormal bowel sounds
0/20
HP: 0030143
Hyperactive bowel sounds
0/20
HP: 0030144
Hypoactive bowel sounds
0/20
HP: 0030409
Renal transitional cell carcinoma
0/20
HP: 0030669
Abnormal ocular adnexa morphology
0/20
HP: 0030947
Conjunctival follicles
0/20
HP: 0030956
Abnormality of cardiovascular system electrophysiology
0/20
HP: 0031071
Abnormal endocrine morphology
0/20
HP: 0031357
Glomeruloid hemangioma
0/20
HP: 0031494
Ovarian mucinous tumor
0/20
HP: 0031703
Abnormal ear morphology
0/20
HP: 0031826
Abnormal reflex
0/20
HP: 0031828
Abnormal superficial 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: 0032064
Gastrointestinal eosinophilia
0/20
HP: 0040133
Abnormal serum ferritin
0/20
HP: 0100007
Neoplasm of the peripheral nervous system
0/20
HP: 0100022
Abnormality of movement
0/20
HP: 0100634
Neuroendocrine neoplasm
0/20
HP: 0100742
Vascular neoplasm
0/20
HP: 0100763
Abnormality of the lymphatic system
0/20
HP: 0100839
Hepatic agenesis
0/20
HP: 0410008
Abnormality of the peripheral nervous system
0/20
HP: 0410042
Abnormal liver morphology
0/20