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ICD-10
HPO
Compare GWAS
Super Class
Benign neoplasm of colon, rectum, anus and anal canal
Sub Class
Sigmoid colon
D12.5
Female
ⓘ
Male
ⓘ
Links
Ignore Sex
Interactive Plot
Statistics
Female Case
Female Control
% Female
2893
246970
40%
Male Case
Male Control
% Male
4252
206090
60%
Top SNP Information
Show Female
Show Male
Location
SNP
Gene
Ref>Alt
Alt in Case
Alt in Control
Chi-square
P-value
Odds ratio
chr11:111171709
rs3802842
COLCA2
A>C
2039
157910
40.78
1.703e-10
1.191
chr11:111165009
rs7103178
-
T>C
2042
158544
38.91
4.431e-10
1.186
chr11:111125512
rs2001754
C11orf53
A>G
2205
173273
36.67
1.4e-09
1.177
chr11:111181120
rs7947952
-
T>C
2601
245248
29.98
4.358e-08
0.8663
chr5:33951693
rs16891982
SLC45A2
G>C
305
35905
29.57
5.403e-08
0.7264
chr4:113868183
rs77023571
ANK2
A>C
25
6026
28.36
1.007e-07
0.3591
chr5:33958959
rs28777
SLC45A2
A>C
254
30589
28.17
1.111e-07
0.7117
chr15:48426484
rs1426654
SLC24A5
A>G
113
15931
27.22
1.82e-07
0.6113
chr5:40265904
rs1348612
-
A>G
1861
146243
27.0
2.039e-07
1.157
chr15:48392165
rs1834640
-
A>G
133
18024
26.99
2.049e-07
0.6355
chr11:113910276
rs7934726
-
T>C
191
23980
26.55
2.569e-07
0.6851
chr10:15994156
rs1339477
-
A>G
72
11328
26.23
3.034e-07
0.5487
chr12:4706369
rs7305150
DYRK4
T>C
2735
255960
25.77
3.84e-07
0.876
chr11:111179054
rs3087587
COLCA2
G>A
2521
236881
25.27
4.993e-07
0.8762
chr14:30792163
rs179075
-
T>C
317
36316
25.19
5.203e-07
0.7483
chr11:111213944
rs12365324
-
G>A
2548
205564
25.12
5.4e-07
1.141
chr1:64273591
rs659592
ROR1
A>G
136
18064
24.99
5.768e-07
0.6493
chr22:26281177
rs73407512
MYO18B
G>C
129
17109
23.63
1.167e-06
0.6499
chr8:30797840
rs10100241
-
A>G
1153
114126
23.53
1.229e-06
0.8525
chr8:43317594
rs2978831
-
G>C
273
31716
23.47
1.271e-06
0.7406
Location
SNP
Gene
Ref>Alt
Alt in Case
Alt in Control
Chi-square
P-value
Odds ratio
chr18:46453463
rs4939827
SMAD7
T>C
3927
214232
65.6
5.525e-16
0.8391
chr5:33951693
rs16891982
SLC45A2
G>C
446
30405
47.63
5.15e-12
0.7144
chr11:111171709
rs3802842
COLCA2
A>C
2929
130828
45.87
1.264e-11
1.167
chr15:48426484
rs1426654
SLC24A5
A>G
128
11354
44.99
1.985e-11
0.5533
chr2:171380643
rs34020565
MYO3B
T>G
123
11047
44.83
2.149e-11
0.5476
chr5:33958959
rs28777
SLC45A2
A>C
370
25782
44.83
2.152e-11
0.7002
chr1:159174683
rs2814778
ACKR1
T>C
81
8259
44.06
3.181e-11
0.4827
chr11:111165009
rs7103178
-
T>C
2934
131372
43.38
4.514e-11
1.162
chr1:204556958
rs12566957
-
T>C
2875
157565
42.33
7.708e-11
0.8614
chr15:48392165
rs1834640
-
A>G
164
13303
40.99
1.533e-10
0.605
chr8:145639681
rs1871534
SLC39A4
G>C
75
7650
40.94
1.569e-10
0.4822
chr18:46459032
rs4464148
SMAD7
T>C
2847
128039
39.54
3.208e-10
1.156
chr11:111125512
rs2001754
C11orf53
A>G
3172
144008
38.48
5.526e-10
1.149
chr1:204477977
rs11240754
-
G>A
2544
139824
37.47
9.272e-10
0.8649
chr7:132115820
rs277481
PLXNA4
A>G
421
27914
37.36
9.812e-10
0.7361
chr12:56755058
rs4301822
APOF
A>G
44
5297
37.03
1.164e-09
0.4092
chr2:226686177
rs7581591
-
T>C
90
8351
36.51
1.522e-09
0.531
chr2:163216109
rs3213843
GCA
C>T
42
5081
35.79
2.195e-09
0.4071
chr12:56722060
rs1918496
PAN2
G>T
39
4858
35.57
2.467e-09
0.3956
chr16:29035406
rs74014848
-
A>G
108
9381
35.03
3.249e-09
0.5663
Associated Phenotypes
ⓘ
Shared SNP phenotype
No shared SNP phenotype
ID
Name
Top Correlation
HP: 0000014
Abnormality of the bladder
7/20
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
5/20
HP: 0000363
Abnormality of earlobe
5/20
HP: 0000377
Abnormality of the pinna
5/20
HP: 0000387
Absent earlobe
15/20
HP: 0000598
Abnormality of the ear
5/20
HP: 0001626
Abnormality of the cardiovascular system
1/20
HP: 0001892
Abnormal bleeding
2/20
HP: 0002014
Diarrhea
8/20
HP: 0002239
Gastrointestinal hemorrhage
8/20
HP: 0002242
Abnormal intestine morphology
4/20
HP: 0002250
Abnormal large intestine morphology
8/20
HP: 0002253
Colonic diverticula
8/20
HP: 0002573
Hematochezia
8/20
HP: 0002580
Volvulus
11/20
HP: 0002664
Neoplasm
3/20
HP: 0003003
Colon cancer
12/20
HP: 0004321
Bladder fistula
10/20
HP: 0005222
Bowel diverticulosis
8/20
HP: 0007378
Neoplasm of the gastrointestinal tract
6/20
HP: 0009906
Aplasia/Hypoplasia of the earlobes
15/20
HP: 0010478
Abnormality of the urachus
17/20
HP: 0010936
Abnormality of the lower urinary tract
7/20
HP: 0011024
Abnormality of the gastrointestinal tract
4/20
HP: 0011028
Abnormality of blood circulation
4/20
HP: 0011029
Internal hemorrhage
4/20
HP: 0011793
Neoplasm by anatomical site
3/20
HP: 0012425
Stercoral ulcer
15/20
HP: 0012718
Morphological abnormality of the gastrointestinal tract
3/20
HP: 0012719
Functional abnormality of the gastrointestinal tract
4/20
HP: 0012851
Colonic stenosis
8/20
HP: 0025032
Abnormality of digestive system physiology
1/20
HP: 0025085
Bloody diarrhea
8/20
HP: 0025487
Abnormality of bladder morphology
8/20
HP: 0031368
Intestinal perforation
13/20
HP: 0031369
Colon perforation
14/20
HP: 0031703
Abnormal ear morphology
5/20
HP: 0100273
Neoplasm of the colon
8/20
HP: 0100525
Urachus fistula
16/20
HP: 0100589
Urogenital fistula
5/20
HP: 0100834
Neoplasm of the large intestine
7/20
ID
Name
Top Correlation
HP: 0001871
Abnormality of blood and blood-forming tissues
0/20
HP: 0002012
Abnormality of the abdominal organs
0/20
HP: 0011025
Abnormal cardiovascular system physiology
0/20
HP: 0011458
Abdominal symptom
0/20
HP: 0025031
Abnormality of the digestive system
0/20
HP: 0025033
Abnormality of digestive system morphology
0/20