Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 2 | 151508004 | splice donor variant | C/A;G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 151498261 | stop gained | G/A;T | snv | 6.4E-06 | 2.1E-05 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 2 | 151519019 | frameshift variant | C/- | del |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 151508057 | frameshift variant | -/AACA | delins | 7.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 2 | 151524310 | splice donor variant | C/G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 151650339 | frameshift variant | CCT/GA | delins |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 151674585 | splice acceptor variant | C/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 151643272 | stop gained | G/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 151695576 | splice region variant | ATCAC/- | delins |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 151688315 | frameshift variant | CT/- | delins |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 151663861 | splice acceptor variant | T/C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 151688290 | splice donor variant | A/G | snv | 1.4E-05 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 2 | 151725561 | splice acceptor variant | C/A;T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 151671022 | splice donor variant | C/A;G;T | snv | 4.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 2 | 151493447 | splice acceptor variant | T/G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 151493869 | splice acceptor variant | T/A;C;G | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 151490371 | splice donor variant | C/G;T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 151654093 | frameshift variant | AG/- | delins |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 151640667 | splice acceptor variant | C/T | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 151545886 | splice donor variant | A/G | snv | 7.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 2 | 151492097 | splice donor variant | C/A;G;T | snv | 4.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 2 | 151664609 | splice acceptor variant | C/G;T | snv | 7.0E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 2 | 151497706 | stop gained | C/A | snv | 5.1E-06 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 2 | 151490495 | stop gained | C/A;G;T | snv | 4.1E-06; 5.8E-05 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 2 | 151697147 | splice donor variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 |