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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.810 | 1.000 | 7 | 2005 | 2015 | |||
|
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 | 40299125 | missense variant | A/G | snv | 0.800 | 1.000 | 21 | 2004 | 2018 | ||||||
|
7 | 0.807 | 0.080 | 12 | 40310435 | missense variant | G/A | snv | 7.0E-06 | 0.800 | 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 | 40322047 | missense variant | G/A;T | snv | 8.0E-06; 3.6E-05 | 0.700 | 1.000 | 21 | 2004 | 2018 | |||||
|
2 | 0.925 | 0.040 | 12 | 40308618 | missense variant | A/G | snv | 8.6E-04 | 5.8E-04 | 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 | 40351585 | missense variant | G/A | snv | 5.2E-05 | 9.1E-05 | 0.700 | 1.000 | 21 | 2004 | 2018 | ||||
|
15 | 0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 | 0.700 | 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 | ||||
|
1 | 1.000 | 12 | 40323256 | missense variant | T/C | snv | 3.5E-04 | 6.1E-04 | 0.700 | 1.000 | 21 | 2004 | 2018 | ||||
|
1 | 1.000 | 12 | 40314059 | missense variant | C/T | snv | 3.2E-02 | 3.0E-02 | 0.700 | 1.000 | 20 | 2004 | 2018 | ||||
|
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 | 40351579 | missense variant | C/T | snv | 4.0E-06 | 4.9E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 12 | 40363440 | missense variant | C/T | snv | 1.6E-04 | 2.4E-04 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 12 | 40293644 | missense variant | A/G | snv | 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 | ||||
|
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 | |||
|
2 | 0.925 | 0.040 | 12 | 40351723 | missense variant | A/G | snv | 3.5E-04 | 5.4E-04 | 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 |