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ICD-10
HPO
Compare GWAS
Super Class
Abnormal morphology of female internal genitalia
Sub Class
Abnormality of the uterine cervix
Abnormal uterus morphology
Aplasia/hypoplasia of the uterus
Abnormality of the uterus
0000130
Normal Case/Contol
ⓘ
Sibling Case/Control
ⓘ
Links
Sex Split
Interactive Plot
Statistics
Case
Control
63361
396833
Phenotype Definition
An abnormality of the uterus. [HPO:probinson]
Top SNP Information
Show Normal Table
Show Sibling SNP
Location
SNP
Gene
Ref>Alt
Alt in Case
Alt in Control
Chi-square
P-value
Odds ratio
chr1:159174683
rs2814778
ACKR1
T>C
3984
15393
717.2
5.344e-158
1.613
chr8:145639681
rs1871534
SLC39A4
G>C
3739
14406
681.2
3.742e-150
1.617
chr15:48426484
rs1426654
SLC24A5
A>G
5280
22246
643.3
6.471e-142
1.482
chr23:106146349
rs5962774
MORC4
T>C
2928
8098
625.1
5.699e-138
1.713
chr23:64367019
rs7064929
-
G>A
4302
13264
596.7
8.794e-132
1.54
chr17:58508582
rs8071181
C17orf64
G>A
3192
12225
592.4
7.402e-131
1.623
chr15:48392165
rs1834640
-
A>G
5873
25751
577.8
1.114e-127
1.424
chr19:42393286
rs717225
ARHGEF1
A>G
4250
17693
546.5
7.288e-121
1.496
chr1:173579034
rs12065033
AL139142.2
C>T
3131
12210
539.5
2.38e-119
1.594
chr6:136480972
rs9483910
PDE7B
C>T
4142
17228
534.6
2.886e-118
1.497
chr9:117110112
Affx-52344420
AKNA
T>TG
2995
11584
534.4
3.151e-118
1.607
chr1:25589335
rs28670433
RSRP1
A>G
3001
11632
531.7
1.211e-117
1.604
chr12:56722060
rs1918496
PAN2
G>T
2471
9146
523.6
7.119e-116
1.678
chr25:2692710
rs2259750
-
A>G
22496
160375
523.1
9.147e-116
0.836
chr8:10557760
rs57041981
RP1L1
A>G
3336
13312
521.3
2.219e-115
1.558
chr12:56755058
rs4301822
APOF
A>G
2640
9972
518.2
1.029e-114
1.645
chr1:159336315
Affx-5502610
-
G>A
2946
11460
512.3
2.05e-113
1.597
chr1:25555672
rs10903036
SYF2
C>T
2803
10810
505.0
7.771e-112
1.61
chr19:42392441
rs16975619
ARHGEF1
T>C
3877
16133
498.9
1.691e-110
1.495
chr16:29790864
rs235636
ZG16
A>G
2658
10163
495.6
8.562e-110
1.624
chr25:2692710
rs2259750
-
A>G
20797
147805
361.6
1.258e-80
0.8566
chr25:155104608
rs5940618
-
G>A
23354
163679
330.4
7.828e-74
0.8683
chr25:154999134
rs6642320
-
G>A
47222
276141
318.4
3.201e-71
1.121
chr25:2661556
rs73188900
-
A>C
1689
16425
306.8
1.091e-68
0.6393
chr25:154986418
rs142918084
-
C>G
5274
25427
304.8
2.929e-68
1.309
chr25:154935282
rs112437556
-
C>T
4937
23884
288.2
1.221e-64
1.31
chr25:2679949
rs311121
-
G>T
19956
110832
287.1
2.153e-64
1.152
chr25:2644302
rs1136470
-
C>T
19201
106613
268.3
2.694e-60
1.149
chr25:155058865
rs73234550
-
G>A
3172
26839
267.2
4.737e-60
0.7335
chr25:155013081
rs146997510
-
T>A
2747
23402
241.6
1.727e-54
0.7292
chr25:2645366
rs311083
-
C>G
43915
292641
239.0
6.492e-54
0.9063
chr25:2691012
rs142162416
-
A>G
6576
33864
222.7
2.298e-50
1.229
chr25:2682149
rs311128
-
C>T
7236
37825
209.5
1.746e-47
1.21
chr25:155183483
rs73237015
-
G>A
25231
144711
207.9
4.023e-47
1.116
chr25:2685254
rs311142
-
C>T
47083
311310
200.3
1.799e-45
0.9152
chr25:154998312
rs306885
-
T>G
62340
374099
190.6
2.32e-43
1.087
chr25:154974730
rs144759332
-
C>G
3740
18459
182.2
1.641e-41
1.278
chr25:2676160
rs312232
-
C>T
29241
170357
168.5
1.584e-38
1.098
chr25:155085824
rs1969622
-
G>C
15979
110736
164.1
1.424e-37
0.8904
chr25:2653913
rs111628445
-
G>A
50539
331474
160.2
1.013e-36
0.9248
Location
SNP
Gene
Ref>Alt
Alt in Case
Alt in Control
Chi-square
P-value
Odds ratio
chr25:154999134
rs6642320
-
G>A
47222
24966
106.4
6.027e-25
1.108
chr25:2661556
rs73188900
-
A>C
1689
1357
99.14
2.347e-23
0.6946
chr25:2692710
rs2259750
-
A>G
20797
12951
99.03
2.493e-23
0.8842
chr25:155104608
rs5940618
-
G>A
23354
14274
78.99
6.228e-19
0.8999
chr25:154935282
rs112437556
-
C>T
4937
2252
70.83
3.892e-17
1.243
chr25:154986418
rs142918084
-
C>G
5274
2426
66.58
3.368e-16
1.226
chr25:2679949
rs311121
-
G>T
19956
10241
66.53
3.45e-16
1.113
chr25:155058865
rs73234550
-
G>A
3172
2207
60.89
6.033e-15
0.8032
chr25:2645366
rs311083
-
C>G
43915
25868
60.51
7.334e-15
0.9265
chr25:2685254
rs311142
-
C>T
47083
27625
54.05
1.951e-13
0.9315
chr25:2691012
rs142162416
-
A>G
6576
3169
53.6
2.46e-13
1.176
chr25:154974730
rs144759332
-
C>G
3740
1704
53.2
3.012e-13
1.241
chr25:2609983
rs2236738
-
C>T
45667
24562
48.42
3.446e-12
1.071
chr25:2676160
rs312232
-
C>T
29241
15470
47.89
4.497e-12
1.081
chr25:2653913
rs111628445
-
G>A
50539
29520
46.47
9.286e-12
0.937
chr25:2637230
rs5939307
-
C>T
28848
15268
44.88
2.091e-11
1.079
chr25:2644302
rs1136470
-
C>T
19201
9973
44.75
2.236e-11
1.093
chr25:2676915
rs311115
-
G>C
10413
5260
42.49
7.121e-11
1.122
chr25:155053713
rs28884873
-
G>A
17935
10835
41.95
9.387e-11
0.9181
chr25:155009856
rs700449
-
C>T
46886
25337
40.0
2.54e-10
1.064
Associated Diseases
ⓘ
Shared SNP diseases
No shared SNP diseases
ID
Name
Top Correlation
ICD: C541
Endometrium
1/20
ICD: D250
Submucous leiomyoma of uterus
10/20
ICD: D251
Intramural leiomyoma of uterus
10/20
ICD: D252
Subserosal leiomyoma of uterus
8/20
ICD: D259
Leiomyoma of uterus, unspecified
14/20
ICD: D269
Uterus, unspecified
3/20
ICD: M5496
Dorsalgia, unspecified (Lumbar region)
1/20
ICD: M5499
Dorsalgia, unspecified (Site unspecified)
6/20
ICD: N739
Female pelvic inflammatory disease, unspecified
6/20
ICD: N800
Endometriosis of uterus
1/20
ICD: N809
Endometriosis, unspecified
2/20
ICD: N811
Cystocele
4/20
ICD: N812
Incomplete uterovaginal prolapse
5/20
ICD: N813
Complete uterovaginal prolapse
2/20
ICD: N832
Other and unspecified ovarian cysts
3/20
ICD: N840
Polyp of corpus uteri
1/20
ICD: N841
Polyp of cervix uteri
1/20
ICD: N854
Malposition of uterus
2/20
ICD: N856
Intra-uterine synechiae
3/20
ICD: N858
Other specified noninflammatory disorders of uterus
1/20
ICD: N870
Mild cervical dysplasia
5/20
ICD: N871
Moderate cervical dysplasia
2/20
ICD: N872
Severe cervical dysplasia, not elsewhere classified
1/20
ICD: N879
Dysplasia of cervix uteri, unspecified
3/20
ICD: N946
Dysmenorrhoea, unspecified
5/20
ICD: N950
Postmenopausal bleeding
1/20
ICD: O034
Incomplete, without complication
6/20
ICD: O039
Complete or unspecified, without complication
6/20
ICD: O209
Haemorrhage in early pregnancy, unspecified
1/20
ICD: O268
Other specified pregnancy-related conditions
7/20
ICD: O269
Pregnancy-related condition, unspecified
7/20
ICD: O341
Maternal care for tumour of corpus uteri
8/20
ICD: O420
Premature rupture of membranes, onset of labour within 24 hours
4/20
ICD: O421
Premature rupture of membranes, onset of labour after 24 hours
1/20
ICD: O429
Premature rupture of membranes, unspecified
2/20
ICD: O622
Other uterine inertia
1/20
ICD: O630
Prolonged first stage (of labour)
1/20
ICD: O641
Obstructed labour due to breech presentation
4/20
ICD: O722
Delayed and secondary postpartum haemorrhage
1/20
ICD: O800
Spontaneous vertex delivery
13/20
ID
Name
Top Correlation
ICD-10: A630
Anogenital (venereal) warts
0/20
ICD-10: C01
Malignant neoplasm of base of tongue
0/20
ICD-10: C482
Peritoneum, unspecified
0/20
ICD-10: C539
Cervix uteri, unspecified
0/20
ICD-10: C55
Malignant neoplasm of uterus, part unspecified
0/20
ICD-10: C788
Secondary malignant neoplasm of other and unspecified digestive organs
0/20
ICD-10: C80
Malignant neoplasm without specification of site
0/20
ICD-10: D069
Cervix, unspecified
0/20
ICD-10: D260
Cervix uteri
0/20
ICD-10: D261
Corpus uteri
0/20
ICD-10: M548
Other dorsalgia
0/20
ICD-10: M5490
Dorsalgia, unspecified (Multiple sites in spine)
0/20
ICD-10: M5494
Dorsalgia, unspecified (Thoracic region)
0/20
ICD-10: N303
Trigonitis
0/20
ICD-10: N342
Other urethritis
0/20
ICD-10: N608
Other benign mammary dysplasias
0/20
ICD-10: N709
Salpingitis and oophoritis, unspecified
0/20
ICD-10: N719
Inflammatory disease of uterus, unspecified
0/20
ICD-10: N72
Inflammatory disease of cervix uteri
0/20
ICD-10: N751
Abscess of Bartholin's gland
0/20
ICD-10: N760
Acute vaginitis
0/20
ICD-10: N764
Abscess of vulva
0/20
ICD-10: N801
Endometriosis of ovary
0/20
ICD-10: N802
Endometriosis of Fallopian tube
0/20
ICD-10: N803
Endometriosis of pelvic peritoneum
0/20
ICD-10: N808
Other endometriosis
0/20
ICD-10: N814
Uterovaginal prolapse, unspecified
0/20
ICD-10: N830
Follicular cyst of ovary
0/20
ICD-10: N842
Polyp of vagina
0/20
ICD-10: N850
Endometrial glandular hyperplasia
0/20
ICD-10: N851
Endometrial adenomatous hyperplasia
0/20
ICD-10: N859
Noninflammatory disorder of uterus, unspecified
0/20
ICD-10: N888
Other specified noninflammatory disorders of cervix uteri
0/20
ICD-10: N889
Noninflammatory disorder of cervix uteri, unspecified
0/20
ICD-10: N925
Other specified irregular menstruation
0/20
ICD-10: N930
Postcoital and contact bleeding
0/20
ICD-10: N941
Dyspareunia
0/20
ICD-10: N952
Postmenopausal atrophic vaginitis
0/20
ICD-10: N993
Prolapse of vaginal vault after hysterectomy
0/20
ICD-10: O300
Twin pregnancy
0/20
ICD-10: O441
Placenta praevia with haemorrhage
0/20
ICD-10: O640
Obstructed labour due to incomplete rotation of foetal head
0/20
ICD-10: O660
Obstructed labour due to shoulder dystocia
0/20
ICD-10: O679
Intrapartum haemorrhage, unspecified
0/20
ICD-10: O730
Retained placenta, without haemorrhage
0/20
ICD-10: O756
Delayed delivery after spontaneous or unspecified rupture of membranes
0/20
ICD-10: O757
Vaginal delivery following previous Caesarean section
0/20
ICD-10: O908
Other complications of the puerperium, not elsewhere classified
0/20
ICD-10: Q513
Bicornate uterus
0/20
ICD-10: R195
Other fecal abnormalities
0/20