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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.160 | 19 | 7184583 | missense variant | T/C | snv | 8.0E-06 | 2.1E-05 | 0.810 | 1.000 | 20 | 1988 | 2017 | |||
|
1 | 1.000 | 0.160 | 19 | 7170704 | missense variant | C/G | snv | 0.810 | 1.000 | 20 | 1988 | 2017 | |||||
|
1 | 1.000 | 0.160 | 19 | 7170561 | missense variant | T/C | snv | 7.0E-06 | 0.800 | 1.000 | 20 | 1988 | 2017 | ||||
|
1 | 1.000 | 0.160 | 19 | 7184511 | missense variant | A/C;G | snv | 4.0E-06 | 0.800 | 1.000 | 20 | 1988 | 2017 | ||||
|
1 | 1.000 | 0.160 | 19 | 7267659 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.800 | 1.000 | 20 | 1988 | 2017 | ||||
|
1 | 1.000 | 0.160 | 19 | 7267559 | missense variant | G/C | snv | 4.0E-06 | 0.800 | 1.000 | 20 | 1988 | 2017 | ||||
|
1 | 1.000 | 0.160 | 19 | 7267830 | missense variant | A/G | snv | 0.800 | 1.000 | 20 | 1988 | 2017 | |||||
|
1 | 1.000 | 0.160 | 19 | 7172381 | missense variant | C/T | snv | 0.800 | 1.000 | 20 | 1988 | 2017 | |||||
|
1 | 1.000 | 0.160 | 19 | 7267825 | missense variant | C/T | snv | 0.800 | 1.000 | 20 | 1988 | 2017 | |||||
|
2 | 0.925 | 0.160 | 19 | 7122893 | missense variant | G/A | snv | 0.710 | 1.000 | 20 | 1988 | 2017 | |||||
|
1 | 1.000 | 0.160 | 19 | 7170648 | missense variant | T/C | snv | 0.710 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1.000 | 0.160 | 19 | 7132230 | stop gained | G/A;C | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.160 | 19 | 7126585 | frameshift variant | ATCACTGGCA/CTTCC | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.160 | 19 | 7152862 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 19 | 7267833 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 19 | 7267555 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 19 | 7267641 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 19 | 7132224 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 19 | 7163092 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.280 | 19 | 7142938 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.160 | 19 | 7152840 | missense variant | G/T | snv | 1.1E-04 | 9.1E-05 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
2 | 0.925 | 0.280 | 19 | 7184592 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1991 | 1991 |