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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
Case/Control GWAS
ⓘ
Links
Sex Split
Interactive Plot
Statistics
Case
Control
7145
453060
Top SNP Information
Show Table
Location
SNP
Gene
Ref>Alt
Alt in Case
Alt in Control
Chi-square
P-value
Odds Ratio
chr11:111171709
rs3802842
COLCA2
A>C
4968
288738
84.27
4.325e-20
1.175
chr11:111165009
rs7103178
-
T>C
4976
289916
79.98
3.78e-19
1.17
chr15:48426484
rs1426654
SLC24A5
A>G
241
27285
78.29
8.917e-19
0.5658
chr18:46453463
rs4939827
SMAD7
T>C
6691
469426
78.24
9.108e-19
0.863
chr5:33951693
rs16891982
SLC45A2
G>C
751
66310
76.39
2.324e-18
0.7205
chr11:111125512
rs2001754
C11orf53
A>G
5377
317281
73.27
1.131e-17
1.159
chr15:48392165
rs1834640
-
A>G
297
31327
73.24
1.148e-17
0.6072
chr5:33958959
rs28777
SLC45A2
A>C
624
56371
72.59
1.597e-17
0.7056
chr1:159174683
rs2814778
ACKR1
T>C
158
19219
65.21
6.73e-16
0.5285
chr2:163216109
rs3213843
GCA
C>T
85
12067
55.34
1.014e-13
0.4533
chr1:64273591
rs659592
ROR1
A>G
342
32576
52.08
5.324e-13
0.6741
chr15:89154966
rs7170666
-
G>A
577
50169
52.02
5.506e-13
0.7358
chr8:145639681
rs1871534
SLC39A4
G>C
161
17984
49.45
2.033e-12
0.5754
chr15:45491394
rs1648299
SHF
T>C
149
17010
49.27
2.229e-12
0.564
chr16:28954860
rs7203982
-
T>C
302
29080
48.85
2.758e-12
0.6665
chr9:117110112
Affx-52344420
AKNA
T>TG
119
14460
48.7
2.976e-12
0.5303
chr9:129979758
rs3780318
RALGPS1
G>A
139
16102
48.45
3.385e-12
0.5558
chr16:28995057
rs11859822
SPNS1
T>C
303
29133
48.44
3.41e-12
0.6681
chr1:204477977
rs11240754
-
G>A
4329
306451
47.97
4.317e-12
0.8816
chr16:29035406
rs74014848
-
A>G
204
21277
47.52
5.452e-12
0.6166
Associated Phenotypes
ⓘ
Shared SNP phenotypes
No shared SNP phenotypes
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