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ICD-10
HPO
Compare GWAS
Super Class
Abnormal involuntary movements
Sub Class
Fasciculation
R25.3
Case/Control GWAS
ⓘ
Links
Sex Split
Interactive Plot
Statistics
Case
Control
117
460088
Top SNP Information
Show Table
Location
SNP
Gene
Ref>Alt
Alt in Case
Alt in Control
Chi-square
P-value
Odds Ratio
chr12:30657263
rs61921071
-
T>G
14
11188
40.06
2.463e-10
4.818
chr20:23869747
rs78187307
-
G>A
33
48701
31.88
1.644e-08
2.741
chr12:29891521
rs75124302
TMTC1
A>G
14
14013
28.12
1.143e-07
3.865
chr17:7906426
rs9905402
GUCY2D
T>C
21
26515
28.03
1.194e-07
3.146
chr4:173002325
rs78056267
GALNTL6
C>T
27
38292
27.8
1.347e-07
2.789
chr5:86518681
rs75090058
AC008394.1
G>T
29
42715
27.41
1.644e-07
2.691
chr2:212230621
rs73083812
-
C>T
15
16126
26.32
2.899e-07
3.583
chr4:58921077
rs115676906
-
C>T
12
11580
25.32
4.855e-07
3.96
chr15:97940137
rs12595727
-
C>T
19
23871
24.95
5.895e-07
3.093
chr13:71818999
rs117192516
-
T>C
14
15041
24.89
6.07e-07
3.602
chr17:45930197
rs8066743
SP6
T>C
18
22402
24.64
6.9e-07
3.155
chr3:111114802
rs1601963
CD96
A>G
17
20466
24.17
8.801e-07
3.21
chr3:141039247
rs75378591
PXYLP1
G>A
12
11922
24.13
9.006e-07
3.849
chr1:35476239
rs41266437
AC114490.2
T>C
19
24290
24.04
9.421e-07
3.035
chr1:112054063
rs116062834
TMIGD3
C>T
14
15369
23.92
1.005e-06
3.523
chr3:117084425
rs2869782
-
C>T
31
50056
23.65
1.158e-06
2.458
chr6:103771991
rs141848174
-
C>T
13
13683
23.62
1.171e-06
3.638
chr5:180513587
rs72819892
-
G>A
35
59674
23.33
1.367e-06
2.342
chr3:111137579
rs2646970
CD96
G>A
16
19197
22.89
1.717e-06
3.213
chr12:30660861
rs61921073
-
A>C
30
49194
22.81
1.788e-06
2.452
Associated Phenotypes
ⓘ
Shared SNP phenotypes
No shared SNP phenotypes
ID
Name
Top Correlation
HP: 0000773
Short ribs
4/20
HP: 0001308
Tongue fasciculations
1/20
HP: 0001445
Abnormality of the hip-girdle musculature
15/20
HP: 0001469
Abnormal morphology of the pelvis musculature
15/20
HP: 0001471
Aplasia/Hypoplasia of the musculature of the pelvis
20/20
HP: 0003749
Pelvic girdle muscle weakness
15/20
HP: 0006657
Hypoplasia of first ribs
4/20
HP: 0006711
Aplasia/Hypoplasia involving bones of the thorax
3/20
HP: 0006712
Aplasia/Hypoplasia of the ribs
2/20
HP: 0007289
Limb fasciculations
1/20
HP: 0007340
Lower limb muscle weakness
1/20
HP: 0008946
Pelvic girdle amyotrophy
20/20
HP: 0008988
Pelvic girdle muscle atrophy
20/20
ID
Name
Top Correlation
HP: 0000118
Phenotypic abnormality
0/20
HP: 0000152
Abnormality of head or neck
0/20
HP: 0000153
Abnormality of the mouth
0/20
HP: 0000157
Abnormality of the tongue
0/20
HP: 0000163
Abnormal oral cavity morphology
0/20
HP: 0000234
Abnormality of the head
0/20
HP: 0000271
Abnormality of the face
0/20
HP: 0000707
Abnormality of the nervous system
0/20
HP: 0000708
Behavioral abnormality
0/20
HP: 0000765
Abnormality of the thorax
0/20
HP: 0000772
Abnormality of the ribs
0/20
HP: 0000924
Abnormality of the skeletal system
0/20
HP: 0001324
Muscle weakness
0/20
HP: 0001547
Abnormality of the rib cage
0/20
HP: 0002380
Fasciculations
0/20
HP: 0003011
Abnormality of the musculature
0/20
HP: 0003026
Short long bone
0/20
HP: 0003202
Skeletal muscle atrophy
0/20
HP: 0003325
Limb-girdle muscle weakness
0/20
HP: 0003690
Limb muscle weakness
0/20
HP: 0003797
Limb-girdle muscle atrophy
0/20
HP: 0004305
Involuntary movements
0/20
HP: 0009115
Aplasia/hypoplasia involving the skeleton
0/20
HP: 0009121
Abnormal axial skeleton morphology
0/20
HP: 0009122
Aplasia/hypoplasia affecting bones of the axial skeleton
0/20
HP: 0009127
Abnormality of the musculature of the limbs
0/20
HP: 0009815
Aplasia/hypoplasia of the extremities
0/20
HP: 0009826
Limb undergrowth
0/20
HP: 0010546
Muscle fibrillation
0/20
HP: 0011314
Abnormality of long bone morphology
0/20
HP: 0011804
Abnormal muscle physiology
0/20
HP: 0011805
Abnormal skeletal muscle morphology
0/20
HP: 0011842
Abnormality of skeletal morphology
0/20
HP: 0011844
Abnormal appendicular skeleton morphology
0/20
HP: 0012473
Tongue atrophy
0/20
HP: 0012638
Abnormal nervous system physiology
0/20
HP: 0025031
Abnormality of the digestive system
0/20
HP: 0025033
Abnormality of digestive system morphology
0/20
HP: 0030236
Abnormality of muscle size
0/20
HP: 0030809
Abnormal tongue morphology
0/20
HP: 0030810
Abnormal tongue physiology
0/20
HP: 0031816
Abnormal oral morphology
0/20
HP: 0040064
Abnormality of limbs
0/20
HP: 0100022
Abnormality of movement
0/20