Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 15 | 89317469 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 4 | 2006 | 2010 | |||
|
1 | 1.000 | 0.080 | 15 | 89317446 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.080 | 15 | 89317405 | missense variant | C/A;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 15 | 89317538 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 89316797 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 89317447 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 89317496 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 89317457 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 15 | 89317522 | splice acceptor variant | TAGGCAAACATGCACCTGA/- | del | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 15 | 89317493 | missense variant | A/G | snv | 2.0E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 15 | 89317525 | frameshift variant | -/AACA | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 15 | 89317379 | stop gained | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 15 | 89317510 | missense variant | A/C | snv | 4.0E-06 | 0.700 | 0 |