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ICD-10
HPO
Compare GWAS
Super Class
Acquired deformities of fingers and toes
Sub Class
Other hammer toe(s) (acquired)
M20.4
Case/Control GWAS
ⓘ
Links
Sex Split
Interactive Plot
Statistics
Case
Control
2515
457690
Top SNP Information
Show Table
Location
SNP
Gene
Ref>Alt
Alt in Case
Alt in Control
Chi-square
P-value
Odds Ratio
chr15:48426484
rs1426654
SLC24A5
A>G
59
27467
53.58
2.485e-13
0.3961
chr5:33951693
rs16891982
SLC45A2
G>C
231
66830
47.17
6.5e-12
0.6318
chr1:36106253
rs584598
PSMB2
A>G
135
43208
41.21
1.366e-10
0.5748
chr5:33958959
rs28777
SLC45A2
A>C
196
56799
39.77
2.861e-10
0.6338
chr15:48392165
rs1834640
-
A>G
89
31535
38.43
5.688e-10
0.5209
chr5:9203914
rs1805972
SEMA5A
T>C
111
36564
37.52
9.047e-10
0.5596
chr1:36008113
rs6702503
KIAA0319L
T>C
133
41694
37.47
9.285e-10
0.5872
chr20:2315543
rs6132532
AL121899.2
A>G
168
49366
36.12
1.856e-09
0.6263
chr1:35745141
rs2458890
ZMYM4
C>T
144
43994
36.07
1.902e-09
0.6046
chr19:42393286
rs717225
ARHGEF1
A>G
53
21890
35.5
2.553e-09
0.4484
chr10:45243171
rs10900107
-
T>C
65
24681
34.65
3.955e-09
0.4867
chr19:42392310
rs2288509
ARHGEF1
C>T
37
17507
34.48
4.303e-09
0.3924
chr19:42391425
rs28521795
ARHGEF1
G>A
42
18780
34.31
4.704e-09
0.4148
chr19:42392441
rs16975619
ARHGEF1
T>C
47
19963
33.81
6.091e-09
0.4365
chr8:145639681
rs1871534
SLC39A4
G>C
40
18105
33.8
6.12e-09
0.4091
chr11:61095368
rs7397033
DDB1
T>C
29
14897
32.33
1.304e-08
0.3622
chr9:117110112
Affx-52344420
AKNA
T>TG
28
14551
32.15
1.429e-08
0.3572
chr15:45556163
rs8023604
SLC28A2
T>C
22
12889
32.13
1.441e-08
0.3173
chr15:45491394
rs1648299
SHF
T>C
38
17121
31.64
1.855e-08
0.4117
chr1:47103172
rs1258066
ATPAF1
T>C
35
16187
30.91
2.704e-08
0.4017
Associated Phenotypes
ⓘ
Shared SNP phenotypes
No shared SNP phenotypes
ID
Name
Top Correlation
HP: 0000118
Phenotypic abnormality
3/20
HP: 0000924
Abnormality of the skeletal system
2/20
HP: 0001367
Abnormal joint morphology
4/20
HP: 0001371
Flexion contracture
7/20
HP: 0001760
Abnormality of the foot
8/20
HP: 0001765
Hammertoe
10/20
HP: 0001780
Abnormality of toe
6/20
HP: 0001822
Hallux valgus
4/20
HP: 0001832
Abnormal metatarsal morphology
10/20
HP: 0001844
Abnormality of the hallux
7/20
HP: 0001964
Aplasia/Hypoplasia of metatarsal bones
10/20
HP: 0002813
Abnormality of limb bone morphology
5/20
HP: 0002814
Abnormality of the lower limb
5/20
HP: 0003011
Abnormality of the musculature
1/20
HP: 0003026
Short long bone
8/20
HP: 0003121
Limb joint contracture
7/20
HP: 0003549
Abnormality of connective tissue
8/20
HP: 0005750
Contractures of the joints of the lower limbs
7/20
HP: 0005830
Flexion contracture of toe
11/20
HP: 0006493
Aplasia/hypoplasia involving bones of the lower limbs
8/20
HP: 0006494
Aplasia/Hypoplasia involving bones of the feet
9/20
HP: 0008366
Contractures involving the joints of the feet
5/20
HP: 0009115
Aplasia/hypoplasia involving the skeleton
4/20
HP: 0009815
Aplasia/hypoplasia of the extremities
4/20
HP: 0010051
Deviation of the hallux
4/20
HP: 0010054
Abnormality of the first metatarsal bone
10/20
HP: 0010105
Short first metatarsal
10/20
HP: 0010511
Long toe
13/20
HP: 0010743
Short metatarsal
10/20
HP: 0011297
Abnormal digit morphology
9/20
HP: 0011308
Slender toe
20/20
HP: 0011314
Abnormality of long bone morphology
1/20
HP: 0011729
Abnormality of joint mobility
9/20
HP: 0011805
Abnormal skeletal muscle morphology
2/20
HP: 0011842
Abnormality of skeletal morphology
2/20
HP: 0011844
Abnormal appendicular skeleton morphology
5/20
HP: 0030044
Flexion contracture of digit
11/20
HP: 0040064
Abnormality of limbs
5/20
HP: 0040068
Abnormality of limb bone
5/20
HP: 0040069
Abnormal lower limb bone morphology
9/20
HP: 0045060
Aplasia/hypoplasia involving bones of the extremities
5/20
HP: 0100261
Abnormal tendon morphology
3/20
HP: 0100491
Abnormality of lower limb joint
8/20
HP: 0100492
Joint contractures involving the joints of the feet
11/20
HP: 0100498
Deviation of toes
5/20
HP: 0100500
Fibular deviation of toes
4/20
ID
Name
Top Correlation
HP: 0011843
Abnormality of skeletal physiology
0/20