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 | MT | 14598 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.050 | 1.000 | 5 | 2005 | 2011 | |||
|
64 | 0.672 | 0.400 | 6 | 42978330 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
60 | 0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
45 | 0.701 | 0.400 | 12 | 47983399 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
16 | 0.716 | 0.240 | 10 | 122454932 | missense variant | G/T | snv | 0.26 | 0.23 | 0.020 | 1.000 | 2 | 2017 | 2018 | |||
|
12 | 0.742 | 0.280 | 12 | 88083161 | stop gained | G/A;T | snv | 7.0E-05 | 0.700 | 0 | |||||||
|
13 | 0.763 | 0.280 | 12 | 88083936 | stop gained | T/A | snv | 5.5E-05 | 9.1E-05 | 0.700 | 0 | ||||||
|
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 | ||||
|
21 | 0.790 | 0.160 | 6 | 78946061 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
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 | |||||
|
8 | 0.807 | 0.080 | 17 | 8014700 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.807 | 0.120 | 3 | 129532727 | missense variant | C/G;T | snv | 9.7E-04 | 4.1E-04 | 0.700 | 0 | ||||||
|
14 | 0.827 | 0.280 | 9 | 136418847 | missense variant | G/A;T | snv | 2.4E-05; 4.0E-06 | 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 | |||
|
7 | 0.851 | 0.200 | 1 | 216325499 | missense variant | G/A;T | snv | 4.0E-06; 2.8E-05 | 0.700 | 0 | |||||||
|
13 | 0.851 | 0.240 | 9 | 136418630 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.200 | 12 | 88120121 | frameshift variant | CTCT/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
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 | |||
|
5 | 0.882 | 0.080 | 2 | 55870851 | missense variant | A/G | snv | 0.700 | 0 |