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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 7 | 85022533 | missense variant | G/T | snv | 4.0E-03 | 4.2E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 21 | 40189232 | missense variant | G/A | snv | 9.5E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 2 | 68655413 | missense variant | T/A | snv | 5.6E-04 | 6.2E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 4 | 41746307 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 43100496 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 43102444 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 43105186 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 43123732 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 43126678 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 43114478 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 21225411 | missense variant | G/A | snv | 2.5E-04 | 1.7E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 10 | 43102608 | missense variant | G/A;C | snv | 4.8E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 22 | 37974064 | missense variant | T/C | snv | 8.4E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 21247317 | missense variant | A/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 10 | 43100480 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 43119575 | missense variant | C/T | snv | 8.3E-06 | 0.700 | 0 | |||||||
|
10 | 0.776 | 0.200 | 10 | 43113654 | missense variant | T/A;C;G | snv | 0.760 | 1.000 | 33 | 1994 | 2017 | |||||
|
2 | 0.925 | 0.080 | 10 | 43113623 | missense variant | C/G;T | snv | 0.020 | 0.500 | 2 | 1994 | 1998 | |||||
|
3 | 0.882 | 0.080 | 13 | 77901181 | missense variant | C/A | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 1994 | 1994 | ||||
|
17 | 0.724 | 0.280 | 10 | 43113648 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06 | 0.030 | 1.000 | 3 | 1996 | 1998 | ||||
|
2 | 0.925 | 0.080 | 13 | 77901185 | stop gained | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
4 | 0.851 | 0.160 | 10 | 43106550 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
6 | 0.807 | 0.280 | 5 | 37816010 | missense variant | G/A | snv | 2.3E-03 | 2.7E-03 | 0.010 | 1.000 | 1 | 1997 | 1997 | |||
|
8 | 0.776 | 0.160 | 10 | 43113655 | missense variant | G/A;C;T | snv | 0.730 | 1.000 | 3 | 1998 | 2009 | |||||
|
1 | 1.000 | 0.080 | 20 | 59324430 | missense variant | C/A;G;T | snv | 2.0E-05; 3.6E-05 | 0.010 | 1.000 | 1 | 1998 | 1998 |