| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.100 | 0.833 | 48 | 2003 | 2020 | ||||||||
|
0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 |
|
0.100 | 0.941 | 17 | 2012 | 2020 | |||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.100 | 1.000 | 16 | 2009 | 2020 | |||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.100 | 0.867 | 15 | 2007 | 2020 | |||||||
|
0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 |
|
0.100 | 1.000 | 10 | 2007 | 2020 | ||||||||
|
0.807 | 0.160 | 16 | 52565276 | intron variant | C/T | snv | 0.20 |
|
0.770 | 1.000 | 10 | 2010 | 2020 | ||||||||
|
0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 |
|
0.070 | 0.857 | 7 | 2007 | 2020 | ||||||||
|
0.742 | 0.240 | 11 | 101062681 | missense variant | C/A;G | snv | 0.13; 4.0E-06 |
|
0.060 | 0.667 | 6 | 2002 | 2020 | ||||||||
|
0.752 | 0.240 | 11 | 101129483 | 5 prime UTR variant | C/T | snv | 3.6E-02 |
|
0.040 | 1.000 | 4 | 2008 | 2020 | ||||||||
|
0.882 | 0.120 | 6 | 81483392 | intergenic variant | T/C | snv | 0.19 |
|
0.730 | 1.000 | 4 | 2012 | 2020 | ||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.040 | 1.000 | 4 | 2011 | 2020 | ||||||||
|
0.807 | 0.240 | 20 | 54169534 | intron variant | T/C | snv | 0.20 |
|
0.020 | 1.000 | 2 | 2018 | 2020 | ||||||||
|
0.925 | 0.080 | 11 | 101105243 | intron variant | C/G | snv | 0.47 |
|
0.020 | 1.000 | 2 | 2013 | 2020 | ||||||||
|
0.763 | 0.240 | 20 | 54156202 | intron variant | T/A;C | snv |
|
0.020 | 1.000 | 2 | 2015 | 2020 | |||||||||
|
0.925 | 0.080 | 8 | 89955478 | missense variant | G/A;C;T | snv | 4.0E-06; 6.4E-05 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.080 | 13 | 32332437 | missense variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.080 | 13 | 110719619 | missense variant | C/T | snv | 5.1E-04 | 6.6E-04 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.882 | 0.080 | 4 | 147368237 | intergenic variant | T/C | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.080 | 12 | 9168938 | stop gained | G/A | snv | 4.3E-03 | 3.3E-03 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.925 | 0.080 | 19 | 54983311 | missense variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.763 | 0.200 | 20 | 54170358 | intron variant | C/T | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.827 | 0.280 | 13 | 32346896 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.080 | 11 | 101128040 | missense variant | C/G | snv | 0.13 | 0.12 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.925 | 0.080 | 11 | 4390219 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 |