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ICD-10
HPO
Compare GWAS
Super Class
Female genital prolapse
Sub Class
Rectocele
N81.6
Case/Control GWAS
ⓘ
Links
Sex Split
Interactive Plot
Statistics
Case
Control
5399
454806
Top SNP Information
Show Table
Location
SNP
Gene
Ref>Alt
Alt in Case
Alt in Control
Chi-square
P-value
Odds Ratio
chr5:33951693
rs16891982
SLC45A2
G>C
519
66542
86.13
1.688e-20
0.6598
chr5:33958959
rs28777
SLC45A2
A>C
429
56566
80.88
2.396e-19
0.6434
chr15:48426484
rs1426654
SLC24A5
A>G
164
27362
74.58
5.823e-18
0.5123
chr15:48392165
rs1834640
-
A>G
213
31411
63.35
1.727e-15
0.5794
chr19:42393286
rs717225
ARHGEF1
A>G
127
21816
62.93
2.142e-15
0.4986
chr15:101692828
rs7168504
-
T>C
264
36689
61.99
3.446e-15
0.6142
chr2:3313043
rs73133173
EIPR1
A>C
66
14397
61.0
5.718e-15
0.3936
chr19:42392441
rs16975619
ARHGEF1
T>C
113
19897
60.13
8.901e-15
0.4869
chr19:42392310
rs2288509
ARHGEF1
C>T
95
17449
56.88
4.623e-14
0.4672
chr5:33951116
rs35397
SLC45A2
T>G
802
89309
55.54
9.155e-14
0.7606
chr19:42391425
rs28521795
ARHGEF1
G>A
107
18715
55.52
9.243e-14
0.4912
chr1:159174683
rs2814778
ACKR1
T>C
113
19264
54.51
1.548e-13
0.5033
chr6:136516257
rs7753890
PDE7B
T>C
238
32796
53.55
2.516e-13
0.6208
chr2:66725070
rs12995572
MEIS1
G>C
184
26967
53.33
2.817e-13
0.5838
chr10:31515132
rs2484990
-
C>T
147
22945
53.19
3.026e-13
0.5496
chr6:136511472
rs3799396
PDE7B
A>G
242
32895
51.12
8.674e-13
0.6298
chr5:54280007
rs1508890
ESM1
C>A
108
18308
50.87
9.85e-13
0.5073
chr15:89154966
rs7170666
-
G>A
413
50333
50.76
1.042e-12
0.6999
chr14:70655751
rs8022091
SLC8A3
C>A
322
41056
50.63
1.115e-12
0.6694
chr10:31512098
rs2484992
-
C>T
149
22760
50.01
1.53e-12
0.5615
Associated Phenotypes
ⓘ
Shared SNP phenotypes
No shared SNP phenotypes
ID
Name
Top Correlation
HP: 0000008
Abnormal morphology of female internal genitalia
3/20
HP: 0000014
Abnormality of the bladder
8/20
HP: 0000078
Abnormality of the genital system
2/20
HP: 0000079
Abnormality of the urinary system
2/20
HP: 0000118
Phenotypic abnormality
3/20
HP: 0000119
Abnormality of the genitourinary system
1/20
HP: 0000142
Abnormal vagina morphology
1/20
HP: 0000812
Abnormal internal genitalia
1/20
HP: 0001438
Abnormality of abdomen morphology
2/20
HP: 0002034
Abnormality of the rectum
8/20
HP: 0002035
Rectal prolapse
12/20
HP: 0002242
Abnormal intestine morphology
4/20
HP: 0002250
Abnormal large intestine morphology
8/20
HP: 0003549
Abnormality of connective tissue
8/20
HP: 0010460
Abnormality of the female genitalia
2/20
HP: 0010936
Abnormality of the lower urinary tract
9/20
HP: 0011024
Abnormality of the gastrointestinal tract
3/20
HP: 0012243
Abnormal reproductive system morphology
2/20
HP: 0012718
Morphological abnormality of the gastrointestinal tract
3/20
HP: 0012732
Anorectal anomaly
7/20
HP: 0025487
Abnormality of bladder morphology
9/20
HP: 0031607
Pelvic organ prolapse
11/20
HP: 0100645
Cystocele
11/20
HP: 0100672
Vaginal hernia
12/20
HP: 0100790
Hernia
7/20
HP: 0100822
Rectocele
14/20
HP: 0100823
Genital hernia
3/20
ID
Name
Top Correlation
HP: 0002012
Abnormality of the abdominal organs
0/20
HP: 0025031
Abnormality of the digestive system
0/20
HP: 0025033
Abnormality of digestive system morphology
0/20