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ICD-10
HPO
Compare GWAS
Super Class
Lung diseases due to external agents
Sub Class
Pneumoconiosis due to asbestos and other mineral fibres
J61
Case/Control GWAS
ⓘ
Links
Sex Split
Interactive Plot
Statistics
Case
Control
290
459904
Top SNP Information
Show Table
Location
SNP
Gene
Ref>Alt
Alt in Case
Alt in Control
Chi-square
P-value
Odds Ratio
chr5:81072532
rs184950061
-
A>G
27
16673
29.62
5.246e-08
2.795
chr18:60750766
rs77713468
-
G>A
32
21764
28.21
1.089e-07
2.54
chr11:22271520
rs113327729
ANO5
G>A
25
15629
26.59
2.513e-07
2.749
chr5:33958959
rs28777
SLC45A2
A>C
6
56989
24.6
7.05e-07
0.1673
chr5:33951693
rs16891982
SLC45A2
G>C
10
67051
24.3
8.223e-07
0.236
chr1:216079027
rs11590241
USH2A
A>C
69
65757
24.1
9.154e-07
1.859
chr20:10023080
rs113671103
ANKEF1
T>C
32
23620
23.17
1.481e-06
2.34
chr1:43630315
rs11559312
EBNA1BP2
T>A
21
12863
23.14
1.504e-06
2.786
chr8:139364224
rs79335375
FAM135B
C>T
23
14737
23.01
1.61e-06
2.668
chr7:117378562
rs117808971
CTTNBP2
C>T
29
20586
23.0
1.624e-06
2.423
chr16:60361691
rs80027631
-
G>A
19
11282
22.39
2.221e-06
2.872
chr5:33951116
rs35397
SLC45A2
T>G
21
90090
21.94
2.817e-06
0.3682
chr14:35872792
rs2233415
NFKBIA
G>A
99
246950
21.84
2.968e-06
0.6005
chr5:116215179
rs75086898
-
C>T
47
40858
21.82
2.998e-06
2.007
chr4:909118
rs114757879
GAK
T>C
33
25181
21.81
3.008e-06
2.259
chr2:205399222
rs75804225
-
C>T
26
18078
21.65
3.266e-06
2.468
chr7:86271384
rs74675958
-
A>C
61
58026
21.35
3.825e-06
1.852
chr22:50987287
rs5770886
KLHDC7B
A>G
68
187348
21.29
3.941e-06
0.5554
chr15:27751567
rs4288951
GABRG3
T>A
13
70032
21.27
3.994e-06
0.296
chr15:27746840
rs8027835
GABRG3
T>C
15
74250
21.26
4.013e-06
0.3189
Associated Phenotypes
ⓘ
Shared SNP phenotypes
No shared SNP phenotypes
ID
Name
Top Correlation
HP: 0000118
Phenotypic abnormality
1/20
HP: 0000496
Abnormality of eye movement
2/20
HP: 0000640
Gaze-evoked nystagmus
3/20
HP: 0004469
Chronic bronchitis
2/20
HP: 0006536
Obstructive lung disease
2/20
HP: 0012387
Bronchitis
2/20
HP: 0025177
Peribronchovascular interstitial thickening
1/20
HP: 0030877
Reduced FEV1/FVC ratio
12/20
HP: 0031944
Pleural thickening
3/20
HP: 0045049
Abnormal DLCO
3/20
HP: 0045051
Decreased DLCO
3/20
ID
Name
Top Correlation
HP: 0000152
Abnormality of head or neck
0/20
HP: 0000234
Abnormality of the head
0/20
HP: 0000271
Abnormality of the face
0/20
HP: 0000359
Abnormality of the inner ear
0/20
HP: 0000478
Abnormality of the eye
0/20
HP: 0000598
Abnormality of the ear
0/20
HP: 0000639
Nystagmus
0/20
HP: 0000666
Horizontal nystagmus
0/20
HP: 0000707
Abnormality of the nervous system
0/20
HP: 0000708
Behavioral abnormality
0/20
HP: 0001751
Vestibular dysfunction
0/20
HP: 0002086
Abnormality of the respiratory system
0/20
HP: 0002088
Abnormal lung morphology
0/20
HP: 0002103
Abnormality of the pleura
0/20
HP: 0002206
Pulmonary fibrosis
0/20
HP: 0002795
Functional respiratory abnormality
0/20
HP: 0006516
Hypersensitivity pneumonitis
0/20
HP: 0006530
Interstitial pulmonary abnormality
0/20
HP: 0007670
Abnormal vestibulo-ocular reflex
0/20
HP: 0007979
Gaze-evoked horizontal nystagmus
0/20
HP: 0011389
Functional abnormality of the inner ear
0/20
HP: 0011947
Respiratory tract infection
0/20
HP: 0012252
Abnormal respiratory system morphology
0/20
HP: 0012373
Abnormal eye physiology
0/20
HP: 0012547
Abnormal involuntary eye movements
0/20
HP: 0012638
Abnormal nervous system physiology
0/20
HP: 0030878
Abnormality on pulmonary function testing
0/20
HP: 0031703
Abnormal ear morphology
0/20
HP: 0031704
Abnormal ear physiology
0/20
HP: 0032340
Abnormal spirometry test
0/20