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ICD-10
HPO
Compare GWAS
Super Class
Visual disturbances
Sub Class
Other visual disturbances
H53.8
Case/Control GWAS
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Links
Sex Split
Interactive Plot
Statistics
Case
Control
986
459219
Top SNP Information
Show Table
Location
SNP
Gene
Ref>Alt
Alt in Case
Alt in Control
Chi-square
P-value
Odds Ratio
chr15:48392165
rs1834640
-
A>G
117
31507
34.26
4.827e-09
1.734
chr15:45491394
rs1648299
SHF
T>C
73
17086
34.2
4.973e-09
1.983
chr15:29214702
rs55817275
APBA2
C>G
292
97500
31.39
2.106e-08
1.421
chr6:3940294
rs9503830
-
C>T
65
15126
30.98
2.61e-08
1.992
chr1:217122929
rs2576198
ESRRG
G>T
60
13865
29.21
6.496e-08
2.004
chr4:6619004
rs4234764
MAN2B2
G>A
73
18025
28.8
8.042e-08
1.877
chr15:48426484
rs1426654
SLC24A5
A>G
101
27425
28.43
9.733e-08
1.713
chr9:122405879
rs7028119
-
G>A
69
16974
27.48
1.587e-07
1.882
chr9:96088677
rs117037505
C9orf129
C>T
55
12641
27.05
1.982e-07
2.009
chr16:17200685
rs8046024
XYLT1
C>T
77
19700
26.88
2.165e-07
1.812
chr16:58752137
rs139235307
GOT2
C>T
73
18417
26.54
2.584e-07
1.832
chr1:65013534
rs4915982
CACHD1
C>T
96
26251
26.2
3.078e-07
1.698
chr10:18287814
rs11818989
SLC39A12
T>G
89
24027
25.73
3.918e-07
1.722
chr10:105816916
rs805698
COL17A1
T>C
60
14440
25.7
3.98e-07
1.922
chr2:25256520
rs10169985
-
G>A
149
45614
25.0
5.727e-07
1.525
chr16:9229056
rs9925564
-
A>G
86
23169
24.89
6.08e-07
1.722
chr5:72585924
rs73762038
-
C>T
203
66478
24.13
9.014e-07
1.435
chr18:71992502
rs7237249
C18orf63
T>C
277
165950
23.75
1.095e-06
0.7293
chr22:20881678
rs11090206
MED15
C>A
108
31158
23.75
1.095e-06
1.612
chr9:129557967
rs7863211
-
G>A
73
19129
23.41
1.309e-06
1.768
Associated Phenotypes
ⓘ
Shared SNP phenotypes
No shared SNP phenotypes
ID
Name
Top Correlation
HP: 0000118
Phenotypic abnormality
2/20
HP: 0000152
Abnormality of head or neck
2/20
HP: 0000234
Abnormality of the head
2/20
HP: 0000356
Abnormality of the outer ear
2/20
HP: 0000363
Abnormality of earlobe
2/20
HP: 0000377
Abnormality of the pinna
2/20
HP: 0000504
Abnormality of vision
1/20
HP: 0000505
Visual impairment
2/20
HP: 0000598
Abnormality of the ear
2/20
HP: 0000707
Abnormality of the nervous system
1/20
HP: 0000864
Abnormality of the hypothalamus-pituitary axis
2/20
HP: 0001626
Abnormality of the cardiovascular system
1/20
HP: 0001965
Abnormality of the scalp
2/20
HP: 0002011
Morphological central nervous system abnormality
2/20
HP: 0002500
Abnormality of the cerebral white matter
3/20
HP: 0002597
Abnormality of the vasculature
1/20
HP: 0002664
Neoplasm
1/20
HP: 0002715
Abnormality of the immune system
1/20
HP: 0003011
Abnormality of the musculature
1/20
HP: 0006859
Posterior leukoencephalopathy
1/20
HP: 0007359
Focal-onset seizure
1/20
HP: 0009748
Large earlobe
2/20
HP: 0010576
Intracranial cystic lesion
1/20
HP: 0010822
Scintillating scotoma
2/20
HP: 0011006
Abnormal morphology of the musculature of the neck
3/20
HP: 0011157
Focal sensory seizure
1/20
HP: 0011165
Focal sensory seizure with visual features
4/20
HP: 0011792
Neoplasm by histology
1/20
HP: 0011805
Abnormal skeletal muscle morphology
2/20
HP: 0012443
Abnormality of brain morphology
2/20
HP: 0012503
Abnormality of the pituitary gland
2/20
HP: 0012639
Abnormal nervous system morphology
1/20
HP: 0012893
Neck muscle hypertrophy
18/20
HP: 0030670
Hamartoma of the orbital region
1/20
HP: 0030724
Central nervous system cyst
1/20
HP: 0031703
Abnormal ear morphology
2/20
HP: 0100763
Abnormality of the lymphatic system
1/20
HP: 0410278
Pituitary gland cyst
5/20
HP: 0500091
Lymphangioma of the orbit
15/20
ID
Name
Top Correlation
HP: 0000271
Abnormality of the face
0/20
HP: 0000315
Abnormality of the orbital region
0/20
HP: 0000464
Abnormality of the neck
0/20
HP: 0000478
Abnormality of the eye
0/20
HP: 0000575
Scotoma
0/20
HP: 0001123
Visual field defect
0/20
HP: 0001250
Seizure
0/20
HP: 0002060
Abnormal cerebral morphology
0/20
HP: 0002180
Neurodegeneration
0/20
HP: 0002352
Leukoencephalopathy
0/20
HP: 0003712
Skeletal muscle hypertrophy
0/20
HP: 0007367
Atrophy/Degeneration affecting the central nervous system
0/20
HP: 0010566
Hamartoma
0/20
HP: 0010993
Abnormality of the cerebral subcortex
0/20
HP: 0011025
Abnormal cardiovascular system physiology
0/20
HP: 0012373
Abnormal eye physiology
0/20
HP: 0012638
Abnormal nervous system physiology
0/20
HP: 0025323
Abnormal arterial physiology
0/20
HP: 0030163
Abnormal vascular physiology
0/20
HP: 0030164
Jaw claudication
0/20
HP: 0030236
Abnormality of muscle size
0/20
HP: 0031071
Abnormal endocrine morphology
0/20
HP: 0100547
Abnormality of forebrain morphology
0/20
HP: 0100764
Lymphangioma
0/20
HP: 0100809
Scalp tenderness
0/20