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 | 0.080 | 17 | 72124037 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 72124284 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 72122796 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 72121643 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 72121740 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 72122802 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 72124229 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 72122778 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 72123592 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 72124177 | stop gained | C/A;G;T | snv | 3.3E-04 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.200 | 17 | 72122795 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
10 | 0.776 | 0.200 | 19 | 46756793 | missense variant | C/T | snv | 9.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.120 | 6 | 121447563 | missense variant | G/A | snv | 2.4E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.070 | 1.000 | 7 | 2007 | 2009 | ||||
|
1 | 1.000 | 0.080 | 17 | 72122749 | missense variant | C/G;T | snv | 4.0E-06 | 0.800 | 1.000 | 12 | 1995 | 2013 | ||||
|
2 | 0.925 | 0.080 | 17 | 72121618 | missense variant | C/A | snv | 0.710 | 1.000 | 12 | 1995 | 2013 | |||||
|
2 | 0.925 | 0.080 | 17 | 72122804 | missense variant | A/G | snv | 0.700 | 1.000 | 12 | 1995 | 2013 | |||||
|
2 | 0.925 | 0.200 | 17 | 72122759 | missense variant | G/A | snv | 0.700 | 1.000 | 12 | 1995 | 2013 | |||||
|
1 | 1.000 | 0.080 | 17 | 72121727 | missense variant | C/A | snv | 0.700 | 1.000 | 12 | 1995 | 2013 | |||||
|
2 | 0.925 | 0.080 | 17 | 72122780 | missense variant | C/T | snv | 0.700 | 1.000 | 12 | 1995 | 2013 |