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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.742 | 0.240 | 15 | 78596058 | 3 prime UTR variant | G/A | snv | 0.39 |
|
0.040 | 1.000 | 4 | 2010 | 2020 | ||||||||
|
0.752 | 0.200 | 6 | 161785820 | missense variant | G/A;T | snv | 1.9E-03; 8.0E-06 |
|
0.020 | 0.500 | 2 | 2015 | 2020 | ||||||||
|
0.742 | 0.240 | 20 | 63349782 | missense variant | G/A;C | snv | 0.47; 6.1E-05 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.683 | 0.400 | 17 | 7675143 | missense variant | C/A;T | snv | 4.0E-05 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.882 | 0.080 | 6 | 161785882 | missense variant | T/C | snv | 1.6E-05 | 4.2E-05 |
|
0.010 | < 0.001 | 1 | 2020 | 2020 | |||||||
|
0.882 | 0.080 | 20 | 63350202 | synonymous variant | C/A;T | snv | 0.84; 1.3E-05 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.882 | 0.080 | 3 | 187075914 | 3 prime UTR variant | G/A | snv | 1.5E-02 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.882 | 0.080 | 3 | 187076315 | 3 prime UTR variant | G/A | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.695 | 0.480 | 17 | 7674944 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.882 | 0.080 | 10 | 73913605 | missense variant | G/A;T | snv | 1.2E-04; 4.0E-05 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.882 | 0.080 | 6 | 41687764 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2020 | 2020 | ||||||||
|
0.882 | 0.080 | 1 | 20644539 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 |
|
0.010 | < 0.001 | 1 | 2020 | 2020 | |||||||
|
0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 |
|
0.100 | 0.980 | 102 | 2005 | 2019 | |||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.100 | 0.921 | 38 | 2003 | 2019 | |||||||
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.100 | 0.968 | 31 | 2006 | 2019 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.100 | 0.968 | 31 | 2006 | 2019 | |||||||||
|
0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv |
|
0.100 | 0.968 | 31 | 2006 | 2019 | |||||||||
|
0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 |
|
0.100 | 0.967 | 30 | 1999 | 2019 | |||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.100 | 0.962 | 26 | 2003 | 2019 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.826 | 23 | 2001 | 2019 | |||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.100 | 0.636 | 22 | 2004 | 2019 | |||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.100 | 0.813 | 16 | 2004 | 2019 | ||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.100 | 0.909 | 11 | 2010 | 2019 | ||||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
0.100 | 0.900 | 10 | 2001 | 2019 | ||||||||
|
0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv |
|
0.070 | 1.000 | 7 | 2011 | 2019 |