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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.900 | 0.895 | 0 | 2003 | 2017 | ||||
|
9 | 0.732 | 0.280 | 17 | 43106487 | missense variant | A/C;G;T | snv | 3.2E-05 | 0.770 | 1.000 | 0 | 2005 | 2019 | ||||
|
8 | 0.790 | 0.280 | 16 | 23621362 | stop gained | C/T | snv | 6.0E-05 | 2.1E-05 | 0.730 | 1.000 | 3 | 2010 | 2016 | |||
|
4 | 0.882 | 0.080 | 16 | 23636036 | frameshift variant | CT/- | delins | 1.4E-05 | 0.710 | 1.000 | 3 | 2010 | 2018 | ||||
|
9 | 0.752 | 0.200 | 17 | 43093844 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 | 0.710 | 1.000 | 0 | 2003 | 2003 | ||||
|
3 | 0.827 | 0.200 | 17 | 43049188 | missense variant | A/C;G;T | snv | 8.0E-06 | 0.710 | 1.000 | 0 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 15 | 90979736 | intron variant | G/A | snv | 8.6E-02 | 0.700 | 0 | |||||||
|
7 | 0.827 | 0.200 | 2 | 47463096 | stop gained | ATGA/-;ATGAATGA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 90971530 | intron variant | C/T | snv | 0.10 | 0.700 | 0 | |||||||
|
29 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.320 | 1 | 241513661 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.240 | 11 | 44108226 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.790 | 0.240 | 22 | 28725254 | missense variant | G/A;T | snv | 5.2E-05 | 0.700 | 0 | |||||||
|
6 | 0.742 | 0.320 | 16 | 2046238 | stop gained | G/A | snv | 1.4E-03 | 1.4E-03 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 13 | 32337423 | frameshift variant | ACAT/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 17 | 61849196 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.240 | 16 | 23614089 | frameshift variant | T/- | delins | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.280 | 11 | 108304801 | stop gained | C/A;T | snv | 2.0E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 13 | 32370999 | frameshift variant | AA/-;AAA | delins | 0.700 | 0 | ||||||||
|
14 | 0.724 | 0.440 | 13 | 32340037 | stop gained | C/A;G;T | snv | 4.0E-06; 2.0E-05 | 0.700 | 0 | |||||||
|
33 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 0.700 | 0 | ||||||
|
7 | 0.827 | 0.360 | 22 | 28695239 | frameshift variant | A/- | delins | 4.4E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.240 | 22 | 28711994 | missense variant | A/G;T | snv | 3.5E-04; 8.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.320 | 11 | 108335105 | missense variant | T/C | snv | 3.2E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.160 | 11 | 108332024 | missense variant | C/G | snv | 1.6E-05 | 2.1E-05 | 0.700 | 0 |