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ICD-10
HPO
Compare GWAS
Super Class
Other specified soft tissue disorders
Sub Class
Other specified soft tissue disorders (Lower leg)
M79.86
Case/Control GWAS
ⓘ
Links
Sex Split
Interactive Plot
Statistics
Case
Control
4115
456090
Top SNP Information
Show Table
Location
SNP
Gene
Ref>Alt
Alt in Case
Alt in Control
Chi-square
P-value
Odds Ratio
chr1:169519049
rs6025
F5
C>T
334
21380
104.6
1.465e-24
1.764
chr1:169477574
rs6687813
-
C>A
682
58777
46.16
1.087e-11
1.312
chr1:169514006
rs1018827
F5
G>A
680
59169
42.52
6.979e-11
1.299
chr1:169491555
rs2420371
F5
A>G
654
56898
41.35
1.275e-10
1.3
chr1:168889373
rs78516619
-
A>G
157
10706
38.03
6.973e-10
1.641
chr1:169428944
rs1208134
CCDC181
T>C
636
56343
34.01
5.481e-09
1.272
chr1:169099137
rs75112989
ATP1B1
G>A
623
55837
30.09
4.122e-08
1.257
chr1:169015430
rs79107137
-
C>T
589
53290
25.9
3.598e-07
1.243
chr18:71360429
rs10871728
-
C>T
3426
356057
23.61
1.18e-06
1.113
chr9:136142203
rs514659
ABO
A>C
2931
301995
23.59
1.19e-06
1.118
chr9:136137065
rs687621
ABO
A>G
3025
312946
23.35
1.347e-06
1.116
chr9:136149399
rs507666
ABO
G>A
1742
174248
22.79
1.804e-06
1.137
chr9:136143442
rs612169
ABO
A>G
3031
313429
22.11
2.577e-06
1.112
chr10:88049778
rs1902680
GRID1
G>A
511
69314
22.08
2.617e-06
0.8068
chr4:60826699
rs13112895
-
C>T
249
37006
22.03
2.681e-06
0.7396
chr9:136155000
rs635634
-
C>T
1727
172970
22.02
2.693e-06
1.135
chr13:111459167
rs72663484
-
A>G
2253
272023
21.41
3.717e-06
0.8925
chr5:31694140
rs55691230
PDZD2
C>A
1614
161157
21.27
3.993e-06
1.136
chr6:122414227
rs12215908
-
G>A
262
21950
21.22
4.092e-06
1.336
chr12:103887477
rs1320344
C12orf42
G>A
2566
307547
21.13
4.293e-06
0.8972
Associated Phenotypes
ⓘ
Shared SNP phenotypes
No shared SNP phenotypes
ID
Name
Top Correlation
HP: 0001163
Abnormality of the metacarpal bones
12/20
HP: 0002684
Thickened calvaria
11/20
HP: 0002967
Cubitus valgus
10/20
HP: 0004719
Hyperechogenic kidneys
10/20
HP: 0005914
Aplasia/Hypoplasia involving the metacarpal bones
11/20
HP: 0005916
Abnormal metacarpal morphology
10/20
HP: 0005927
Aplasia/hypoplasia involving bones of the hand
2/20
HP: 0006496
Aplasia/hypoplasia involving bones of the upper limbs
2/20
HP: 0010049
Short metacarpal
11/20
ID
Name
Top Correlation
HP: 0000077
Abnormality of the kidney
0/20
HP: 0000079
Abnormality of the urinary system
0/20
HP: 0000118
Phenotypic abnormality
0/20
HP: 0000119
Abnormality of the genitourinary system
0/20
HP: 0000152
Abnormality of head or neck
0/20
HP: 0000234
Abnormality of the head
0/20
HP: 0000924
Abnormality of the skeletal system
0/20
HP: 0000929
Abnormal skull morphology
0/20
HP: 0001155
Abnormality of the hand
0/20
HP: 0001367
Abnormal joint morphology
0/20
HP: 0002683
Abnormality of the calvaria
0/20
HP: 0002813
Abnormality of limb bone morphology
0/20
HP: 0002817
Abnormality of the upper limb
0/20
HP: 0003026
Short long bone
0/20
HP: 0005922
Abnormal hand morphology
0/20
HP: 0009115
Aplasia/hypoplasia involving the skeleton
0/20
HP: 0009121
Abnormal axial skeleton morphology
0/20
HP: 0009810
Abnormality of upper limb joint
0/20
HP: 0009811
Abnormality of the elbow
0/20
HP: 0009815
Aplasia/hypoplasia of the extremities
0/20
HP: 0010935
Abnormality of the upper urinary tract
0/20
HP: 0011314
Abnormality of long bone morphology
0/20
HP: 0011842
Abnormality of skeletal morphology
0/20
HP: 0011844
Abnormal appendicular skeleton morphology
0/20
HP: 0012210
Abnormal renal morphology
0/20
HP: 0040064
Abnormality of limbs
0/20
HP: 0040068
Abnormality of limb bone
0/20
HP: 0040070
Abnormal upper limb bone morphology
0/20
HP: 0045060
Aplasia/hypoplasia involving bones of the extremities
0/20