Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.120 | 3 | 38551504 | missense variant | C/A;T | snv |
|
0.840 | 1.000 | 24 | 1995 | 2017 | |||||||||
|
0.776 | 0.120 | 3 | 38551022 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.820 | 1.000 | 20 | 1995 | 2018 | ||||||||
|
0.882 | 0.120 | 3 | 38550988 | missense variant | T/C | snv |
|
0.810 | 1.000 | 24 | 1995 | 2017 | |||||||||
|
1.000 | 0.120 | 3 | 38551495 | missense variant | C/A;G;T | snv | 4.0E-05 |
|
0.810 | 1.000 | 24 | 1995 | 2017 | ||||||||
|
0.882 | 0.120 | 3 | 38551070 | missense variant | T/C | snv | 7.0E-06 |
|
0.810 | 1.000 | 24 | 1995 | 2017 | ||||||||
|
0.882 | 0.120 | 3 | 38562467 | missense variant | G/A | snv | 1.8E-04 | 2.1E-04 |
|
0.810 | 1.000 | 20 | 1995 | 2015 | |||||||
|
0.882 | 0.120 | 3 | 38597787 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 25 | 1998 | 2017 | ||||||||
|
0.851 | 0.120 | 3 | 38560170 | missense variant | C/T | snv |
|
0.800 | 1.000 | 25 | 1998 | 2017 | |||||||||
|
1.000 | 0.080 | 3 | 38609824 | missense variant | G/A;C | snv |
|
0.800 | 1.000 | 25 | 1998 | 2017 | |||||||||
|
1.000 | 0.080 | 3 | 38554372 | stop gained | C/A;T | snv |
|
0.800 | 1.000 | 25 | 1998 | 2017 | |||||||||
|
0.925 | 0.080 | 3 | 38606709 | missense variant | C/A;T | snv |
|
0.800 | 1.000 | 25 | 1998 | 2017 | |||||||||
|
0.925 | 0.080 | 3 | 38555664 | missense variant | G/A | snv | 5.6E-05 | 1.4E-05 |
|
0.800 | 1.000 | 24 | 1998 | 2017 | |||||||
|
1.000 | 0.120 | 3 | 38581337 | missense variant | GA/TT | mnv |
|
0.800 | 1.000 | 24 | 1995 | 2017 | |||||||||
|
0.882 | 0.120 | 3 | 38581170 | missense variant | C/A;T | snv | 7.9E-05 |
|
0.800 | 1.000 | 24 | 1995 | 2017 | ||||||||
|
0.925 | 0.080 | 3 | 38609823 | missense variant | C/T | snv | 1.6E-05 |
|
0.800 | 1.000 | 24 | 1998 | 2017 | ||||||||
|
1.000 | 0.080 | 3 | 38585801 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.800 | 1.000 | 24 | 1998 | 2017 | |||||||
|
1.000 | 0.120 | 3 | 38551076 | missense variant | T/A;C;G | snv |
|
0.800 | 1.000 | 24 | 1995 | 2017 | |||||||||
|
0.882 | 0.120 | 3 | 38606743 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.800 | 1.000 | 24 | 1998 | 2017 | |||||||
|
1.000 | 0.080 | 3 | 38550602 | missense variant | C/T | snv | 6.0E-05 | 2.8E-05 |
|
0.800 | 1.000 | 21 | 1998 | 2016 | |||||||
|
0.851 | 0.120 | 3 | 38550989 | missense variant | A/G | snv |
|
0.800 | 1.000 | 21 | 1998 | 2016 | |||||||||
|
0.882 | 0.120 | 3 | 38581002 | stop gained | C/A;T | snv | 1.1E-04 | 1.5E-04 |
|
0.800 | 1.000 | 21 | 1998 | 2016 | |||||||
|
0.763 | 0.120 | 3 | 38606710 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 |
|
0.800 | 1.000 | 21 | 1998 | 2016 | |||||||
|
0.827 | 0.120 | 3 | 38551513 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 21 | 1998 | 2016 | ||||||||
|
0.776 | 0.120 | 3 | 38551022 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 20 | 1998 | 2016 | ||||||||
|
0.882 | 0.120 | 3 | 38581002 | stop gained | C/A;T | snv | 1.1E-04 | 1.5E-04 |
|
0.800 | 1.000 | 20 | 1995 | 2015 |