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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.790 | 0.240 | 2 | 168932442 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.200 | 18 | 57669433 | missense variant | A/G | snv | 9.6E-05 | 9.1E-05 | 0.800 | 1.000 | 9 | 1998 | 2016 | |||
|
3 | 0.882 | 0.200 | 18 | 57695188 | missense variant | C/A;T | snv | 4.0E-06 | 0.820 | 1.000 | 7 | 1998 | 2015 | ||||
|
6 | 0.851 | 0.200 | 7 | 87450090 | splice region variant | T/A | snv | 0.21 | 0.22 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.040 | 18 | 57661207 | missense variant | C/T | snv | 2.0E-05 | 2.8E-05 | 0.800 | 1.000 | 6 | 1998 | 2012 | |||
|
1 | 1.000 | 0.040 | 18 | 57695248 | missense variant | A/G | snv | 7.0E-06 | 0.800 | 1.000 | 6 | 1998 | 2012 | ||||
|
2 | 0.925 | 0.200 | 18 | 57674993 | missense variant | C/T | snv | 0.800 | 1.000 | 6 | 1998 | 2012 | |||||
|
1 | 1.000 | 0.040 | 18 | 57688361 | missense variant | G/A | snv | 0.800 | 1.000 | 6 | 1998 | 2012 | |||||
|
1 | 1.000 | 0.040 | 18 | 57652627 | missense variant | C/T | snv | 0.700 | 1.000 | 6 | 1998 | 2012 | |||||
|
1 | 1.000 | 0.040 | 18 | 57661323 | missense variant | A/G | snv | 1.2E-05 | 0.700 | 1.000 | 6 | 1998 | 2012 | ||||
|
1 | 1.000 | 0.040 | 18 | 57674849 | stop gained | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 18 | 57669352 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 18 | 57668441 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 18 | 57684168 | missense variant | A/G;T | snv | 3.8E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 7 | 87402211 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 87440206 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.080 | 7 | 87440230 | missense variant | T/C | snv | 2.0E-04 | 9.8E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.040 | 7 | 87453005 | stop gained | G/A | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 18 | 57669316 | splice donor variant | A/G | snv | 1.3E-05 | 0.700 | 0 |