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ICD-10
HPO
Compare GWAS
Super Class
Benign neoplasm of colon, rectum, anus and anal canal
Sub Class
Descending colon
D12.4
Case/Control GWAS
ⓘ
Links
Sex Split
Interactive Plot
Statistics
Case
Control
2265
457940
Top SNP Information
Show Table
Location
SNP
Gene
Ref>Alt
Alt in Case
Alt in Control
Chi-square
P-value
Odds Ratio
chr18:46453463
rs4939827
SMAD7
T>C
2070
474047
41.66
1.085e-10
0.8268
chr11:111125512
rs2001754
C11orf53
A>G
1754
320904
41.15
1.409e-10
1.214
chr1:159174683
rs2814778
ACKR1
T>C
39
19338
32.25
1.358e-08
0.4128
chr11:113910276
rs7934726
-
T>C
136
43496
27.28
1.759e-07
0.6367
chr8:145639681
rs1871534
SLC39A4
G>C
39
18106
27.2
1.838e-07
0.4419
chr8:128413305
rs6983267
POU5F1B
G>T
2049
461054
26.51
2.618e-07
0.8591
chr8:128407443
rs10505477
POU5F1B
A>G
2096
471055
26.41
2.767e-07
0.8596
chr7:81694329
rs17820129
CACNA2D1
T>C
237
35457
26.12
3.205e-07
1.405
chr8:116763511
rs7827438
TRPS1
C>T
48
20317
26.11
3.219e-07
0.4837
chr10:35899601
rs12269401
-
T>C
76
27861
26.03
3.367e-07
0.5585
chr6:144665357
rs6917261
UTRN
T>C
23
13092
25.95
3.502e-07
0.3603
chr8:116837897
rs7842594
-
G>A
82
29311
25.7
3.978e-07
0.5721
chr1:65867519
rs4915691
DNAJC6
G>A
149
46063
25.5
4.423e-07
0.6583
chr3:96972155
rs9878641
EPHA6
T>C
69
25805
25.38
4.702e-07
0.5473
chr15:74686539
rs4887142
-
A>G
1097
258643
25.29
4.923e-07
0.8406
chr7:1773996
rs111279332
ELFN1
C>T
30
14988
25.15
5.291e-07
0.4107
chr14:54418986
rs2761880
BMP4
C>T
86
30091
24.92
5.972e-07
0.5841
chr1:202725976
rs10920474
KDM5B
A>C
1117
262665
24.81
6.318e-07
0.8428
chr9:129979758
rs3780318
RALGPS1
G>A
35
16206
24.24
8.489e-07
0.4432
chr8:145754187
rs115228909
C8orf82
C>G
29
14308
23.49
1.254e-06
0.4166
Associated Phenotypes
ⓘ
Shared SNP phenotypes
No shared SNP phenotypes
ID
Name
Top Correlation
HP: 0001892
Abnormal bleeding
2/20
HP: 0002014
Diarrhea
2/20
HP: 0002239
Gastrointestinal hemorrhage
2/20
HP: 0002250
Abnormal large intestine morphology
2/20
HP: 0002573
Hematochezia
2/20
HP: 0002589
Gastrointestinal atresia
4/20
HP: 0004386
Gastrointestinal inflammation
2/20
HP: 0004797
Multiple small bowel atresias
11/20
HP: 0005223
Duplicated colon
4/20
HP: 0011024
Abnormality of the gastrointestinal tract
2/20
HP: 0011100
Intestinal atresia
4/20
HP: 0011140
Gastrointestinal duplication
4/20
HP: 0012550
Colonic varices
4/20
HP: 0012718
Morphological abnormality of the gastrointestinal tract
1/20
HP: 0012719
Functional abnormality of the gastrointestinal tract
2/20
HP: 0012851
Colonic stenosis
4/20
HP: 0025085
Bloody diarrhea
2/20
HP: 0031368
Intestinal perforation
4/20
HP: 0031369
Colon perforation
4/20
HP: 0031813
Colonic eosinophilia
13/20
HP: 0032064
Gastrointestinal eosinophilia
1/20
HP: 0100668
Intestinal duplication
4/20
ID
Name
Top Correlation
HP: 0000118
Phenotypic abnormality
0/20
HP: 0001626
Abnormality of the cardiovascular system
0/20
HP: 0001871
Abnormality of blood and blood-forming tissues
0/20
HP: 0002012
Abnormality of the abdominal organs
0/20
HP: 0002037
Inflammation of the large intestine
0/20
HP: 0002242
Abnormal intestine morphology
0/20
HP: 0002715
Abnormality of the immune system
0/20
HP: 0010978
Abnormality of immune system physiology
0/20
HP: 0011025
Abnormal cardiovascular system physiology
0/20
HP: 0011028
Abnormality of blood circulation
0/20
HP: 0011029
Internal hemorrhage
0/20
HP: 0011458
Abdominal symptom
0/20
HP: 0012647
Abnormal inflammatory response
0/20
HP: 0012649
Increased inflammatory response
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