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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.960 | 25 | 2000 | 2019 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 1.000 | 11 | 2000 | 2019 | |||||||||
|
0.807 | 0.240 | 16 | 56899607 | missense variant | G/A | snv | 0.11 | 8.4E-02 |
|
0.070 | 1.000 | 7 | 2003 | 2019 | |||||||
|
0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 |
|
0.050 | 0.800 | 5 | 1996 | 2019 | |||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
0.030 | 1.000 | 3 | 2013 | 2019 | |||||||
|
0.925 | 0.160 | 7 | 36878390 | intron variant | C/T | snv | 0.59 |
|
0.030 | 1.000 | 3 | 2013 | 2019 | ||||||||
|
0.851 | 0.240 | 13 | 40565740 | intron variant | G/A | snv | 0.16 |
|
0.020 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.020 | 0.500 | 2 | 2015 | 2019 | ||||||||
|
0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 |
|
0.020 | 0.500 | 2 | 2015 | 2019 | ||||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | |||||||
|
0.925 | 0.160 | 7 | 36819038 | non coding transcript exon variant | A/G | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 7 | 37161008 | intron variant | G/A | snv | 0.61 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.200 | 13 | 40557795 | 3 prime UTR variant | C/T | snv | 3.7E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.605 | 0.800 | 7 | 22726602 | non coding transcript exon variant | A/G | snv | 0.72 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.724 | 0.520 | 7 | 22728408 | intron variant | A/C;G | snv |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||||
|
0.742 | 0.360 | 7 | 22728953 | intron variant | C/G | snv | 0.27 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.160 | 9 | 35381507 | intron variant | C/T | snv | 0.35 | 0.38 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.160 | 7 | 5531994 | intron variant | C/T | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.280 | 15 | 101277671 | upstream gene variant | C/A;T | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 1 | 204455900 | synonymous variant | G/A | snv | 0.19 | 0.15 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.320 | 16 | 56960982 | upstream gene variant | G/A | snv | 0.48 | 0.47 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.160 | 19 | 48763133 | downstream gene variant | C/G | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.160 | 2 | 227256385 | missense variant | G/A;T | snv | 4.0E-06; 0.17 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |