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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NAVAJO NEUROHEPATOPATHY
|
28 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
Absent reflex
|
16 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
Anisocoria
|
5 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
Blepharoptosis
|
57 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
Broad-based gait
|
24 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
Decreased vibratory sense
|
8 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
Difficulty standing
|
14 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
Difficulty walking
|
30 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
Distal lower limb amyotrophy
|
8 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
Distal lower limb muscle weakness
|
11 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
Distal upper limb muscle weakness
|
3 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
Gait imbalance
|
24 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
Gait, Drop Foot
|
5 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
Headache
|
75 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
Hypesthesia
|
6 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
Impaired proprioception
|
3 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
|
19 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
Muscle Weakness
|
87 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
Pain in limb
|
5 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
Peripheral demyelination
|
3 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
Photophobia
|
7 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
Progressive muscle weakness
|
15 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
Scoliosis, unspecified
|
135 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
Sensorimotor neuropathy
|
21 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | ||||||||
Sensory neuropathy
|
15 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 |