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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CUTIS LAXA, AUTOSOMAL DOMINANT 3
|
3 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||||
De Barsy syndrome
|
12 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||||
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
|
4 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.800 | 1.000 | 2 | 2015 | 2016 | ||||||
Atrophy of quadriceps femoris muscle
|
1 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Congenital pes cavus
|
15 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Depressive disorder
|
297 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Fatigue
|
67 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Gait abnormality
|
23 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Gait, Unsteady
|
14 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Generalized joint laxity
|
6 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Hammer Toe
|
11 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Headache
|
75 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Hyperreflexia
|
19 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Kyphoscoliosis deformity of spine
|
17 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Low Back Pain
|
11 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Lumbar hyperlordosis
|
8 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
|
19 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Muscle Weakness Lower Limb
|
15 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Myopia
|
167 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Neonatal respiratory distress
|
34 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Paraparesis, Spastic
|
37 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Range of joint movement increased
|
46 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Scoliosis, unspecified
|
135 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Spastic gait
|
9 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 |