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 | 8 | 17723780 | missense variant | G/A;T | snv | 7.7E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
2 | 1.000 | 0.120 | 17 | 75765055 | missense variant | G/A;T | snv | 8.9E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
2 | 1.000 | 6 | 42185686 | missense variant | C/T | snv | 1.0E-04 | 3.5E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | MT | 14598 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.120 | 10 | 68231485 | missense variant | T/C;G | snv | 8.7E-03; 8.8E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 1.000 | 1 | 230995876 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.080 | 8 | 18083991 | missense variant | T/G | snv | 4.5E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.882 | 0.080 | 1 | 26438228 | missense variant | A/G | snv | 2.3E-04 | 1.5E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.882 | 0.040 | 1 | 68431371 | missense variant | C/G | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
4 | 0.882 | 0.080 | 1 | 68438213 | missense variant | A/G | snv | 6.8E-05 | 7.7E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
4 | 1.000 | 0.080 | 21 | 38445560 | missense variant | T/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 1.000 | 0.080 | 12 | 88102888 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | 2 | 73449346 | stop gained | T/A | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.120 | 2 | 165996099 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.200 | 11 | 17531431 | synonymous variant | C/T | snv | 3.6E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
5 | 0.882 | 0.080 | 2 | 55870851 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.120 | 1 | 94000870 | stop gained | G/A | snv | 2.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.200 | 12 | 88120121 | frameshift variant | CTCT/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.851 | 0.200 | 1 | 216325499 | missense variant | G/A;T | snv | 4.0E-06; 2.8E-05 | 0.700 | 0 | |||||||
|
8 | 0.807 | 0.080 | 17 | 8014700 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.776 | 0.120 | 2 | 38075207 | missense variant | C/G;T | snv | 5.0E-06; 3.2E-04 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
10 | 0.790 | 0.240 | 11 | 86952443 | missense variant | T/A;C | snv | 4.0E-06; 2.4E-05 | 0.700 | 0 | |||||||
|
11 | 0.807 | 0.080 | 3 | 129528801 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
11 | 0.807 | 0.120 | 3 | 129532727 | missense variant | C/G;T | snv | 9.7E-04 | 4.1E-04 | 0.700 | 0 | ||||||
|
12 | 0.742 | 0.280 | 12 | 88083161 | stop gained | G/A;T | snv | 7.0E-05 | 0.700 | 0 |