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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 17 | 41586479 | missense variant | A/G | snv | 0.810 | 1.000 | 18 | 1991 | 2006 | |||||
|
1 | 1.000 | 0.080 | 17 | 41583253 | missense variant | A/T | snv | 0.800 | 1.000 | 17 | 1991 | 2006 | |||||
|
1 | 1.000 | 0.080 | 12 | 52519774 | missense variant | G/A | snv | 0.800 | 1.000 | 10 | 1992 | 2011 | |||||
|
2 | 0.925 | 0.080 | 12 | 52519756 | missense variant | A/G | snv | 0.800 | 1.000 | 10 | 1992 | 2011 | |||||
|
2 | 0.925 | 0.080 | 12 | 52516652 | missense variant | T/C | snv | 0.800 | 1.000 | 10 | 1992 | 2011 | |||||
|
4 | 0.851 | 0.080 | 12 | 52516647 | stop gained | C/A;T | snv | 0.710 | 1.000 | 11 | 1992 | 2019 | |||||
|
1 | 1.000 | 0.080 | 17 | 41586466 | missense variant | A/G;T | snv | 0.64 | 0.710 | 1.000 | 1 | 2004 | 2004 | ||||
|
5 | 0.827 | 0.200 | 17 | 41586462 | missense variant | G/A;C | snv | 0.710 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.080 | 17 | 41586446 | missense variant | A/G | snv | 0.700 | 1.000 | 17 | 1991 | 2006 | |||||
|
2 | 0.925 | 0.080 | 17 | 41586471 | missense variant | G/A | snv | 0.700 | 1.000 | 17 | 1991 | 2006 | |||||
|
1 | 1.000 | 0.080 | 12 | 52519802 | missense variant | C/A;G | snv | 0.700 | 1.000 | 10 | 1992 | 2011 | |||||
|
1 | 1.000 | 0.080 | 12 | 52516653 | missense variant | C/T | snv | 0.700 | 1.000 | 10 | 1992 | 2011 | |||||
|
1 | 1.000 | 0.080 | 12 | 52519761 | missense variant | A/G | snv | 0.700 | 1.000 | 10 | 1992 | 2011 | |||||
|
1 | 1.000 | 0.080 | 12 | 52519770 | missense variant | T/C | snv | 0.700 | 1.000 | 10 | 1992 | 2011 | |||||
|
1 | 1.000 | 0.080 | 12 | 52516676 | missense variant | A/G | snv | 0.700 | 1.000 | 10 | 1992 | 2011 | |||||
|
1 | 1.000 | 0.080 | 12 | 52516671 | missense variant | T/G | snv | 0.700 | 1.000 | 10 | 1992 | 2011 | |||||
|
1 | 1.000 | 0.080 | 12 | 52519791 | missense variant | C/G;T | snv | 7.2E-05 | 0.700 | 1.000 | 10 | 1992 | 2011 | ||||
|
7 | 0.790 | 0.120 | 12 | 52517702 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 17 | 41586461 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 17 | 41583266 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 52519795 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 17 | 41583245 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 17 | 41586467 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 17 | 41586450 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 12 | 52519137 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 0 |