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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Muscular Dystrophies, Limb-Girdle
|
37 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.730 | 1.000 | 24 | 2001 | 2018 | |||||
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I
|
52 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.830 | 1.000 | 12 | 2001 | 2018 | |||||
Walker-Warburg congenital muscular dystrophy
|
43 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.710 | 1.000 | 11 | 2001 | 2018 | |||||
Muscle degeneration
|
3 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
MUSCULAR DYSTROPHY, CONGENITAL, 1C
|
12 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.710 | 1.000 | 1 | 2001 | 2001 | |||||
Myopathy
|
166 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
Progressive cGVHD
|
40 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
Progressive Neoplastic Disease
|
40 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
Arachnodactyly
|
25 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.700 | 0 | ||||||||
Chronic fatigue
|
2 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.700 | 0 | ||||||||
Creatine phosphokinase serum increased
|
43 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.700 | 0 | ||||||||
Difficulty standing
|
14 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.700 | 0 | ||||||||
Difficulty walking
|
30 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.700 | 0 | ||||||||
Difficulty walking up stairs
|
7 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.700 | 0 | ||||||||
Dyspnea
|
26 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.700 | 0 | ||||||||
Electrocardiogram abnormal
|
54 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.700 | 0 | ||||||||
Elevated aldolase level
|
3 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.700 | 0 | ||||||||
Exercise-induced myoglobinuria
|
2 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.700 | 0 | ||||||||
Gait imbalance
|
24 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.700 | 0 | ||||||||
Headache
|
75 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.700 | 0 | ||||||||
Hyperextensible skin of face
|
2 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.700 | 0 | ||||||||
Intolerant of heat
|
7 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.700 | 0 | ||||||||
Memory impairment
|
48 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.700 | 0 | ||||||||
Muscle Weakness
|
87 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.700 | 0 | ||||||||
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
|
16 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 0.700 | 0 |