| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
24 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.800 | 1.000 | 28 | 2004 | 2018 | ||||
|
1 | 1.000 | 12 | 40322047 | missense variant | G/A;T | snv | 8.0E-06; 3.6E-05 | 0.700 | 1.000 | 21 | 2004 | 2018 | |||||
|
1 | 1.000 | 12 | 40278154 | missense variant | A/G | snv | 0.700 | 1.000 | 21 | 2004 | 2018 | ||||||
|
1 | 1.000 | 12 | 40299125 | missense variant | A/G | snv | 0.800 | 1.000 | 21 | 2004 | 2018 | ||||||
|
2 | 0.925 | 0.040 | 12 | 40284011 | missense variant | G/A;T | snv | 4.0E-06; 1.0E-03 | 0.700 | 1.000 | 21 | 2004 | 2018 | ||||
|
3 | 0.882 | 0.080 | 12 | 40313976 | missense variant | G/A;C | snv | 4.0E-03; 4.0E-06 | 0.700 | 1.000 | 21 | 2004 | 2018 | ||||
|
7 | 0.827 | 0.120 | 12 | 40321114 | missense variant | A/G | snv | 0.800 | 1.000 | 21 | 2004 | 2018 | |||||
|
9 | 0.763 | 0.120 | 12 | 40340404 | missense variant | T/C | snv | 0.800 | 1.000 | 21 | 2004 | 2018 | |||||
|
1 | 1.000 | 12 | 40293644 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1.000 | 12 | 40304040 | missense variant | G/C;T | snv | 1.4E-04; 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 12 | 40315266 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1.000 | 12 | 40351680 | missense variant | G/A;C;T | snv | 8.0E-06; 2.4E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 12 | 40298433 | missense variant | C/G;T | snv | 2.8E-05; 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 12 | 40323255 | missense variant | A/G | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.040 | 12 | 40323270 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 12 | 40364975 | missense variant | C/A;T | snv | 3.2E-05 | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 12 | 40309225 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 12 | 40340436 | missense variant | A/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.807 | 0.080 | 12 | 40310435 | missense variant | G/A | snv | 7.0E-06 | 0.800 | 1.000 | 21 | 2004 | 2018 | ||||
|
8 | 0.851 | 0.120 | 12 | 40340380 | missense variant | T/C | snv | 3.2E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 12 | 40367012 | missense variant | T/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 12 | 40298346 | missense variant | G/A | snv | 3.2E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 12 | 40363541 | missense variant | G/A | snv | 2.8E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 12 | 40351579 | missense variant | C/T | snv | 4.0E-06 | 4.9E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 12 | 40351585 | missense variant | G/A | snv | 5.2E-05 | 9.1E-05 | 0.700 | 1.000 | 21 | 2004 | 2018 |