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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Joubert syndrome 1
|
31 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 0.800 | 1.000 | 4 | 2009 | 2017 | |||||
Familial aplasia of the vermis
|
175 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
Absent epiphyses
|
1 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 0.700 | 0 | ||||||||
Chronic lung disease
|
7 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 0.700 | 0 | ||||||||
Coat hanger sign of ribs
|
1 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 0.700 | 0 | ||||||||
Congenital clubfoot
|
35 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 0.700 | 0 | ||||||||
Congenital hemivertebra
|
3 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 0.700 | 0 | ||||||||
Congenital hypoplasia of femur
|
3 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 0.700 | 0 | ||||||||
Defect of vertebral segmentation
|
6 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 0.700 | 0 | ||||||||
Hypoplasia of spine
|
1 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 0.700 | 0 | ||||||||
Lung Diseases, Interstitial
|
114 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 0.700 | 0 | ||||||||
Micrognathism
|
52 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 0.700 | 0 | ||||||||
Patent ductus arteriosus
|
25 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 0.700 | 0 | ||||||||
Preaxial foot polydactyly
|
5 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 0.700 | 0 | ||||||||
Pseudarthrosis
|
1 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 0.700 | 0 | ||||||||
Respiratory Failure
|
10 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 0.700 | 0 | ||||||||
Skeletal dysplasia
|
58 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 0.700 | 0 | ||||||||
Uranostaphyloschisis
|
24 | 0.716 | 0.360 | 9 | 136433182 | missense variant | G/A;T | snv | 3.4E-05; 4.2E-06 | 0.700 | 0 |