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ICD-10
HPO
Compare GWAS
Super Class
Visual disturbances
Sub Class
Amblyopia ex anopsia
H53.0
Case/Control GWAS
ⓘ
Links
Sex Split
Interactive Plot
Statistics
Case
Control
841
459364
Top SNP Information
Show Table
Location
SNP
Gene
Ref>Alt
Alt in Case
Alt in Control
Chi-square
P-value
Odds Ratio
chr17:79614937
rs202122134
NPLOC4
T>TAAC
692
318437
36.84
1.28e-09
1.349
chr17:79557043
rs67050149
NPLOC4
C>A
717
338020
33.55
6.948e-09
1.326
chr5:33951693
rs16891982
SLC45A2
G>C
61
67000
30.64
3.109e-08
0.4931
chr17:79577127
rs8077038
NPLOC4
T>G
963
478690
28.24
1.07e-07
1.292
chr17:79686552
rs11868178
AC139530.2
C>G
806
392552
26.85
2.196e-07
1.283
chr17:79589242
rs6565604
NPLOC4
G>A
697
449495
24.74
6.552e-07
0.7839
chr5:33958959
rs28777
SLC45A2
A>C
53
56942
24.63
6.939e-07
0.5068
chr17:79596811
rs9894429
NPLOC4
C>T
695
447034
24.47
7.564e-07
0.7848
chr6:147457670
rs111580947
-
G>A
45
12669
22.43
2.183e-06
2.018
chr5:33955326
rs35390
SLC45A2
A>C
34
41115
21.95
2.798e-06
0.4534
chr5:90272798
rs6881722
ADGRV1
T>G
573
374892
21.9
2.866e-06
0.7877
chr5:86494757
rs6879021
-
C>T
753
476674
21.86
2.932e-06
0.7972
chr5:33955673
rs35391
SLC45A2
C>T
34
40948
21.8
3.028e-06
0.4546
chr3:144170601
rs75147122
-
T>C
205
84584
21.07
4.436e-06
1.405
chr20:56971407
rs117933482
VAPB
T>G
46
13294
21.07
4.438e-06
1.962
chr2:104830013
rs4555365
-
C>T
429
288462
20.42
6.229e-06
0.7781
chr15:48426484
rs1426654
SLC24A5
A>G
18
27508
20.24
6.84e-06
0.3601
chr9:3480671
rs12238307
RFX3
A>G
70
65126
19.9
8.153e-06
0.5839
chr9:78665776
rs7047865
PCSK5
T>G
626
401544
19.79
8.642e-06
0.8009
chr10:54719998
rs12411646
-
T>C
151
118164
19.15
1.211e-05
0.6901
Associated Phenotypes
ⓘ
Shared SNP phenotypes
No shared SNP phenotypes
ID
Name
Top Correlation
HP: 0000077
Abnormality of the kidney
1/20
HP: 0000095
Abnormality of renal glomerulus morphology
5/20
HP: 0000118
Phenotypic abnormality
2/20
HP: 0000123
Nephritis
1/20
HP: 0000152
Abnormality of head or neck
1/20
HP: 0000234
Abnormality of the head
1/20
HP: 0000496
Abnormality of eye movement
3/20
HP: 0000504
Abnormality of vision
1/20
HP: 0000505
Visual impairment
1/20
HP: 0000539
Abnormality of refraction
3/20
HP: 0000646
Amblyopia
7/20
HP: 0000707
Abnormality of the nervous system
1/20
HP: 0002011
Morphological central nervous system abnormality
3/20
HP: 0002715
Abnormality of the immune system
1/20
HP: 0004328
Abnormal anterior eye segment morphology
3/20
HP: 0007663
Reduced visual acuity
2/20
HP: 0008653
Crescentic glomerulonephritis
6/20
HP: 0010935
Abnormality of the upper urinary tract
1/20
HP: 0010978
Abnormality of immune system physiology
1/20
HP: 0011035
Abnormal renal cortex morphology
3/20
HP: 0012210
Abnormal renal morphology
1/20
HP: 0012211
Abnormal renal physiology
1/20
HP: 0012377
Hemianopia
3/20
HP: 0012443
Abnormality of brain morphology
3/20
HP: 0012639
Abnormal nervous system morphology
1/20
HP: 0012647
Abnormal inflammatory response
1/20
HP: 0012649
Increased inflammatory response
1/20
HP: 0012803
Anisometropia
4/20
HP: 0025404
Abnormal visual fixation
18/20
HP: 0025549
Eccentric visual fixation
18/20
HP: 0030516
Homonymous hemianopia
12/20
HP: 0031263
Abnormal renal corpuscle morphology
5/20
HP: 0100704
Cerebral visual impairment
2/20
ID
Name
Top Correlation
HP: 0000079
Abnormality of the urinary system
0/20
HP: 0000099
Glomerulonephritis
0/20
HP: 0000119
Abnormality of the genitourinary system
0/20
HP: 0000271
Abnormality of the face
0/20
HP: 0000315
Abnormality of the orbital region
0/20
HP: 0000478
Abnormality of the eye
0/20
HP: 0000481
Abnormal cornea morphology
0/20
HP: 0000482
Microcornea
0/20
HP: 0000553
Abnormal uvea morphology
0/20
HP: 0000554
Uveitis
0/20
HP: 0000575
Scotoma
0/20
HP: 0000618
Blindness
0/20
HP: 0000708
Behavioral abnormality
0/20
HP: 0001094
Iridocyclitis
0/20
HP: 0001120
Abnormality of corneal size
0/20
HP: 0001123
Visual field defect
0/20
HP: 0001131
Corneal dystrophy
0/20
HP: 0002060
Abnormal cerebral morphology
0/20
HP: 0002180
Neurodegeneration
0/20
HP: 0002352
Leukoencephalopathy
0/20
HP: 0002500
Abnormality of the cerebral white matter
0/20
HP: 0006859
Posterior leukoencephalopathy
0/20
HP: 0007367
Atrophy/Degeneration affecting the central nervous system
0/20
HP: 0010993
Abnormality of the cerebral subcortex
0/20
HP: 0011277
Abnormality of the urinary system physiology
0/20
HP: 0012122
Anterior uveitis
0/20
HP: 0012372
Abnormal eye morphology
0/20
HP: 0012373
Abnormal eye physiology
0/20
HP: 0012575
Abnormal nephron morphology
0/20
HP: 0012638
Abnormal nervous system physiology
0/20
HP: 0100533
Inflammatory abnormality of the eye
0/20
HP: 0100547
Abnormality of forebrain morphology
0/20