rs80338903, USH2A

N. diseases: 25
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 1.000 15 2000 2015
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 1.000 15 2000 2015
RETINITIS PIGMENTOSA 39 (disorder)
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
276 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 1.000 9 1998 2016
Usher Syndrome
CUI: C0271097
Disease: Usher Syndrome
74 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 1.000 8 1998 2019
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 1.000 2 1998 2019
USHER SYNDROME, TYPE IIA
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
314 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 1.000 2 2000 2014
Cone-Rod Dystrophies
CUI: C4085590
Disease: Cone-Rod Dystrophies
53 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 1.000 1 2019 2019
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 1.000 1 2019 2019
Night blindness, congenital stationary
CUI: C0339535
Disease: Night blindness, congenital stationary
52 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 1.000 1 2019 2019
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 1.000 1 2016 2016
Abnormality of the upper limb
CUI: C4020900
Disease: Abnormality of the upper limb
4 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0
Abnormality of upper limb bone
CUI: C4022454
Disease: Abnormality of upper limb bone
1 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0
Abnormality of upper limb joint
CUI: C4021387
Disease: Abnormality of upper limb joint
1 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0
Anxiety
CUI: C0003467
Disease: Anxiety
287 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0
Brisk reflexes
CUI: C2673700
Disease: Brisk reflexes
7 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0
Chronic pain
CUI: C0150055
Disease: Chronic pain
19 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0
Congenital dislocation of radial head
CUI: C0265563
Disease: Congenital dislocation of radial head
2 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0
Congenital sensorineural hearing loss
CUI: C1865866
Disease: Congenital sensorineural hearing loss
17 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0
Distal arthrogryposis syndrome
CUI: C0265213
Disease: Distal arthrogryposis syndrome
15 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0
Dysautonomia
CUI: C0013363
Disease: Dysautonomia
18 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0
Posterior subcapsular cataract
CUI: C0858617
Disease: Posterior subcapsular cataract
9 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0
Usher syndrome type 2
CUI: C0339534
Disease: Usher syndrome type 2
16 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 0