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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.080 | 19 | 11107484 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.080 | 19 | 11106652 | missense variant | G/A;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
12 | 0.752 | 0.240 | 19 | 11116928 | missense variant | G/A | snv | 4.4E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
6 | 0.851 | 0.080 | 19 | 11113534 | splice acceptor variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.080 | 19 | 11102774 | stop gained | G/A;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 19 | 11113292 | missense variant | C/G;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.080 | 19 | 11107436 | stop gained | G/A;T | snv | 4.0E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 19 | 11113643 | stop gained | C/A;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.080 | 19 | 11129598 | missense variant | C/A;G | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 19 | 11102769 | stop gained | C/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
23 | 0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 | 0.010 | < 0.001 | 1 | 1993 | 1993 | ||||
|
10 | 0.763 | 0.120 | 19 | 44909101 | missense variant | C/G;T | snv | 3.9E-04; 1.0E-05 | 0.010 | < 0.001 | 1 | 1993 | 1993 | ||||
|
1 | 1.000 | 0.040 | 19 | 11120146 | missense variant | C/T | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
1 | 1.000 | 0.040 | 19 | 11129527 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||
|
2 | 0.925 | 0.080 | 19 | 11113426 | missense variant | C/A;G | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
1 | 1.000 | 0.040 | 19 | 11107405 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
2 | 0.925 | 0.080 | 2 | 21006422 | missense variant | G/A;T | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 1997 | 1997 | |||
|
5 | 0.851 | 0.200 | 19 | 11110753 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
2 | 0.925 | 0.080 | 19 | 11113599 | frameshift variant | GC/A | delins | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
9 | 0.776 | 0.120 | 2 | 21006289 | missense variant | G/A | snv | 1.7E-04 | 6.3E-05 | 0.020 | 1.000 | 2 | 1997 | 1999 | |||
|
6 | 0.851 | 0.080 | 19 | 11116883 | stop gained | G/A;C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
10 | 0.776 | 0.120 | 2 | 21006196 | missense variant | G/A | snv | 3.4E-04 | 5.0E-04 | 0.040 | 1.000 | 4 | 1997 | 2000 | |||
|
11 | 0.763 | 0.200 | 19 | 11120436 | missense variant | C/A;T | snv | 2.8E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
9 | 0.790 | 0.200 | 19 | 44908705 | missense variant | C/G;T | snv | 6.3E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.020 | 0.500 | 2 | 1993 | 2001 |