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 | 0.160 | 13 | 51958334 | missense variant | G/A;C | snv | 5.2E-05; 8.0E-06 | 0.800 | 1.000 | 48 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.160 | 13 | 51949772 | missense variant | G/A;C;T | snv | 6.0E-05; 2.8E-05; 4.0E-06 | 0.800 | 1.000 | 46 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.160 | 13 | 51949700 | missense variant | C/A;T | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 40 | 1995 | 2019 | |||
|
1 | 1.000 | 0.160 | 13 | 51950116 | missense variant | G/A | snv | 6.8E-05 | 1.4E-05 | 0.810 | 1.000 | 37 | 1995 | 2017 | |||
|
1 | 1.000 | 0.160 | 13 | 51946369 | missense variant | G/A;T | snv | 3.6E-05 | 1.4E-05 | 0.820 | 1.000 | 37 | 1995 | 2017 | |||
|
1 | 1.000 | 0.160 | 13 | 51958538 | missense variant | C/T | snv | 1.6E-05 | 4.9E-05 | 0.800 | 1.000 | 36 | 1995 | 2017 | |||
|
1 | 1.000 | 0.160 | 13 | 51942482 | missense variant | C/T | snv | 1.2E-04 | 6.3E-05 | 0.800 | 1.000 | 35 | 1995 | 2017 | |||
|
1 | 1.000 | 0.160 | 13 | 51944248 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.800 | 1.000 | 35 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.160 | 13 | 51941120 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.800 | 1.000 | 35 | 1995 | 2017 | |||
|
1 | 1.000 | 0.160 | 13 | 51942493 | missense variant | A/G | snv | 2.0E-05 | 7.0E-06 | 0.810 | 1.000 | 34 | 1995 | 2017 | |||
|
1 | 1.000 | 0.160 | 13 | 51946414 | missense variant | G/A | snv | 8.4E-05 | 1.2E-04 | 0.800 | 1.000 | 34 | 1995 | 2017 | |||
|
1 | 1.000 | 0.160 | 13 | 51944231 | missense variant | G/A;C | snv | 3.2E-05; 4.0E-06 | 0.810 | 1.000 | 34 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.160 | 13 | 51939104 | missense variant | C/T | snv | 8.4E-05 | 5.6E-05 | 0.810 | 1.000 | 34 | 1995 | 2017 | |||
|
1 | 1.000 | 0.160 | 13 | 51941081 | missense variant | C/G;T | snv | 8.0E-06 | 0.800 | 1.000 | 34 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.160 | 13 | 51961849 | missense variant | A/C | snv | 5.2E-04 | 4.0E-04 | 0.800 | 1.000 | 33 | 1995 | 2017 | |||
|
1 | 1.000 | 0.160 | 13 | 51944164 | missense variant | G/A | snv | 7.0E-06 | 0.800 | 1.000 | 33 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.160 | 13 | 51944266 | missense variant | G/A | snv | 0.800 | 1.000 | 32 | 1995 | 2017 | |||||
|
1 | 1.000 | 0.160 | 13 | 51942503 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.810 | 1.000 | 32 | 1995 | 2017 | |||
|
1 | 1.000 | 0.160 | 13 | 51950328 | missense variant | G/A | snv | 7.0E-06 | 0.800 | 1.000 | 32 | 1995 | 2019 | ||||
|
1 | 1.000 | 0.160 | 13 | 51958362 | frameshift variant | G/-;GG | delins | 1.1E-04 | 0.700 | 1.000 | 31 | 1995 | 2016 | ||||
|
1 | 1.000 | 0.160 | 13 | 51958372 | missense variant | T/C | snv | 0.800 | 1.000 | 31 | 1995 | 2017 | |||||
|
1 | 1.000 | 0.160 | 13 | 51944161 | missense variant | T/G | snv | 1.5E-04 | 9.1E-05 | 0.800 | 1.000 | 31 | 1995 | 2017 | |||
|
1 | 1.000 | 0.160 | 13 | 51961859 | missense variant | C/A;G;T | snv | 8.0E-06; 1.2E-05; 4.0E-06 | 0.800 | 1.000 | 30 | 1994 | 2017 | ||||
|
1 | 1.000 | 0.160 | 13 | 51941211 | missense variant | C/A;G | snv | 1.6E-05 | 0.800 | 1.000 | 30 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.160 | 13 | 51942497 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 30 | 1995 | 2017 |