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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
Female
ⓘ
Male
ⓘ
Links
Ignore Sex
Interactive Plot
Statistics
Female Case
Female Control
% Female
1788
248069
44%
Male Case
Male Control
% Male
2232
208105
56%
Top SNP Information
Show Female
Show Male
Location
SNP
Gene
Ref>Alt
Alt in Case
Alt in Control
Chi-square
P-value
Odds ratio
chr2:177895374
rs182026546
-
C>T
89
7118
28.53
9.239e-08
1.766
chr2:134158496
rs114887162
NCKAP5
G>A
157
14948
23.8
1.07e-06
1.488
chr20:61343602
rs117161424
NTSR1
T>G
186
36215
22.03
2.68e-06
0.7032
chr5:134458908
rs646506
-
A>G
1679
254140
20.43
6.2e-06
0.8617
chr4:112665488
rs17590289
-
C>T
291
31710
19.37
1.079e-05
1.309
chr7:147976305
rs6977768
CNTNAP2
C>A
102
21790
19.34
1.096e-05
0.6446
chr8:142205386
rs34537797
DENND3
C>T
367
41240
19.15
1.205e-05
1.273
chr5:66234441
rs562432
MAST4
A>G
296
32400
18.94
1.348e-05
1.302
chr4:36596039
rs79892734
-
T>C
176
17834
18.91
1.373e-05
1.399
chr14:70349413
rs117541286
SMOC1
C>T
143
13954
18.9
1.378e-05
1.448
chr22:26134776
rs79846137
-
T>C
89
7899
18.85
1.414e-05
1.591
chr13:63664495
rs73201259
-
G>A
152
15006
18.84
1.425e-05
1.432
chr6:154306533
rs62434440
-
C>T
467
54004
18.63
1.584e-05
1.239
chr6:129613891
rs4257879
LAMA2
T>G
107
9901
18.6
1.608e-05
1.525
chr4:79162934
rs6833721
FRAS1
G>A
1129
175359
18.45
1.743e-05
0.8578
chr13:25108315
rs4770705
-
T>C
1587
203964
18.37
1.822e-05
1.153
chr14:97899361
rs78831285
-
G>A
172
17455
18.26
1.926e-05
1.396
chr8:18658007
rs11786923
PSD3
T>G
1819
236238
18.22
1.97e-05
1.15
chr1:67719163
rs72676102
IL23R
T>A
89
8015
18.16
2.026e-05
1.578
chr3:73458862
rs4677277
PDZRN3
C>T
1263
159536
18.14
2.057e-05
1.159
chr2:177895374
rs182026546
-
C>T
89
7013
29.27
6.284e-08
1.78
chr2:134158496
rs114887162
NCKAP5
G>A
156
14657
24.34
8.088e-07
1.497
chr5:134458908
rs646506
-
A>G
1572
238222
23.53
1.23e-06
0.8487
chr3:73458862
rs4677277
PDZRN3
C>T
1219
150689
22.69
1.906e-06
1.184
chr20:61343602
rs117161424
NTSR1
T>G
183
35563
22.54
2.053e-06
0.6981
chr2:134201776
rs73957102
NCKAP5
T>C
139
13227
20.31
6.572e-06
1.476
chr23:34406677
rs5928536
-
G>A
1208
150667
20.27
6.741e-06
1.173
chr5:66234441
rs562432
MAST4
A>G
279
29909
19.78
8.704e-06
1.32
chr8:11504870
rs17153585
-
T>C
619
72788
19.6
9.572e-06
1.217
chr3:55237092
rs11713484
-
G>A
183
34800
19.59
9.618e-06
0.7152
chr12:15344407
rs11056396
RERG
T>C
519
60010
19.56
9.739e-06
1.234
chr23:133923139
rs17317849
FAM122B
T>C
134
12759
19.5
1.007e-05
1.475
chr3:155302640
rs56022414
PLCH1
C>A
70
5754
19.24
1.154e-05
1.694
chr6:129613891
rs4257879
LAMA2
T>G
107
9756
19.2
1.176e-05
1.536
chr14:70349413
rs117541286
SMOC1
C>T
142
13692
19.15
1.209e-05
1.454
chr8:142205386
rs34537797
DENND3
C>T
365
40703
19.11
1.235e-05
1.274
chr11:69185806
rs4275647
-
C>T
1235
188790
18.8
1.455e-05
0.8582
chr10:8731255
rs7912831
-
T>C
1816
235354
18.7
1.528e-05
1.158
chr4:112665488
rs17590289
-
C>T
283
30652
18.59
1.62e-05
1.307
chr23:15777774
rs137912981
CA5B
A>G
170
17082
18.33
1.861e-05
1.4
Location
SNP
Gene
Ref>Alt
Alt in Case
Alt in Control
Chi-square
P-value
Odds ratio
chr8:128413305
rs6983267
POU5F1B
G>T
1976
209831
39.56
3.18e-10
0.8288
chr8:128407443
rs10505477
POU5F1B
A>G
2028
214339
36.8
1.309e-09
0.8346
chr8:128424792
rs7014346
POU5F1B
G>A
1904
164549
32.03
1.52e-08
1.185
chr8:128428638
Affx-31548678
POU5F1B
G>A
1672
178390
31.14
2.404e-08
0.8418
chr3:4660168
rs11130084
ITPR1
C>G
217
30037
30.95
2.645e-08
0.6797
chr12:132157086
rs7132058
-
G>T
24
6632
29.82
4.731e-08
0.3436
chr14:33473177
rs12589782
NPAS3
G>C
68
12379
29.78
4.835e-08
0.5185
chr7:16784211
rs75035289
-
C>T
368
26786
29.41
5.844e-08
1.344
chr5:33951693
rs16891982
SLC45A2
G>C
228
30623
28.16
1.115e-07
0.6977
chr18:46453463
rs4939827
SMAD7
T>C
2075
216078
27.36
1.689e-07
0.8558
chr12:95329523
rs73218097
NDUFA12
T>C
1900
165347
27.26
1.78e-07
1.17
chr15:48392165
rs1834640
-
A>G
79
13388
27.09
1.938e-07
0.5576
chr15:48426484
rs1426654
SLC24A5
A>G
65
11417
25.1
5.45e-07
0.5392
chr5:2770692
rs12521967
-
T>G
1159
125754
25.08
5.5e-07
0.8431
chr6:170602429
rs17860704
DLL1
T>C
17
5109
24.93
5.948e-07
0.3164
chr20:57183408
rs12480449
-
C>T
147
21032
24.9
6.034e-07
0.6592
chr3:196558328
rs1052100
PAK2
A>G
71
12118
24.89
6.067e-07
0.5544
chr16:8464372
rs1528343
-
G>A
166
23099
24.43
7.724e-07
0.6773
chr14:67640171
rs6573754
GPHN
G>T
474
56104
24.38
7.923e-07
0.7867
chr14:40985028
rs1958874
-
T>G
1343
114894
24.34
8.082e-07
1.175
chr8:128413305
rs6983267
POU5F1B
G>T
1927
200117
42.61
6.695e-11
0.8203
chr8:128407443
rs10505477
POU5F1B
A>G
1971
203821
39.91
2.66e-10
0.8258
chr8:128424792
rs7014346
POU5F1B
G>A
1849
155337
32.04
1.514e-08
1.189
chr8:128428638
Affx-31548678
POU5F1B
G>A
1627
169446
31.83
1.679e-08
0.8379
chr4:6644327
rs7660424
MRFAP1
A>G
266
18317
25.3
4.904e-07
1.376
chr12:95329523
rs73218097
NDUFA12
T>C
1855
157602
25.22
5.107e-07
1.166
chr7:16784211
rs75035289
-
C>T
362
26170
24.89
6.061e-07
1.316
chr19:17844894
rs7253117
MAP1S
A>G
2039
206009
24.72
6.633e-07
0.8604
chr19:17832748
rs35976034
MAP1S
T>G
2200
190267
23.92
1.003e-06
1.159
chr3:107216763
rs75312363
-
A>G
645
50271
23.54
1.223e-06
1.231
chr14:40985028
rs1958874
-
T>G
1291
107642
22.99
1.632e-06
1.173
chr2:53856049
rs7577044
ASB3
T>G
882
94548
22.03
2.688e-06
0.8377
chr11:34879154
rs2941060
APIP
G>A
1984
171273
21.13
4.297e-06
1.15
chr10:121225352
rs3009874
-
A>G
1776
151474
21.06
4.448e-06
1.152
chr5:40139081
rs1366020
-
T>C
1317
110167
20.82
5.039e-06
1.162
chr10:118470942
rs1900509
HSPA12A
C>T
1482
151997
20.49
5.989e-06
0.8653
chr3:107472483
rs116047120
BBX
T>C
128
8031
20.43
6.187e-06
1.501
chr8:128428795
Affx-31548681
POU5F1B
A>G
2357
206246
20.3
6.614e-06
1.146
chr18:46453463
rs4939827
SMAD7
T>C
1979
198671
19.83
8.444e-06
0.8736
chr18:48685445
rs17664049
-
C>T
159
10484
19.55
9.816e-06
1.43
Associated Phenotypes
ⓘ
Shared SNP phenotype
No shared SNP phenotype
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