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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | Y | 1212602 | synonymous variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.851 | 0.240 | X | 78272820 | missense variant | G/A;C;T | snv | 0.73 |
|
0.060 | 1.000 | 6 | 2006 | 2009 | ||||||||
|
1.000 | 0.080 | X | 78327951 | upstream gene variant | C/T | snv |
|
0.020 | 0.500 | 2 | 2009 | 2017 | |||||||||
|
1.000 | 0.080 | X | 29465775 | intron variant | C/A | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.200 | X | 71618204 | intron variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.200 | X | 12920993 | synonymous variant | G/A;C | snv | 0.54 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 22 | 40831082 | intron variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 22 | 40835049 | intron variant | A/G | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.790 | 0.160 | 22 | 37137994 | intron variant | G/A | snv | 0.43 |
|
0.810 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.716 | 0.360 | 21 | 31659813 | missense variant | T/C;G | snv | 8.0E-06 | 7.0E-06 |
|
0.020 | 0.500 | 2 | 2004 | 2011 | |||||||
|
1.000 | 0.080 | 21 | 33424455 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 21 | 29195855 | intron variant | G/A | snv | 0.54 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.120 | 20 | 3671095 | synonymous variant | C/A;G | snv | 4.7E-06; 0.29 |
|
0.060 | 1.000 | 6 | 2008 | 2019 | ||||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
0.030 | 0.333 | 3 | 2005 | 2019 | |||||||
|
0.882 | 0.120 | 20 | 3669558 | missense variant | G/A | snv | 0.13 | 0.14 |
|
0.030 | 1.000 | 3 | 2009 | 2019 | |||||||
|
0.882 | 0.080 | 20 | 3669587 | missense variant | A/G | snv | 0.13 | 0.14 |
|
0.030 | 1.000 | 3 | 2006 | 2019 | |||||||
|
0.649 | 0.520 | 20 | 46014472 | missense variant | G/A;C | snv | 0.16 |
|
0.020 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
0.851 | 0.160 | 20 | 3668514 | 3 prime UTR variant | C/G | snv | 0.71 |
|
0.020 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 |
|
0.020 | 0.500 | 2 | 2011 | 2017 | |||||||
|
0.925 | 0.080 | 20 | 3670579 | non coding transcript exon variant | G/C;T | snv |
|
0.020 | 1.000 | 2 | 2008 | 2013 | |||||||||
|
0.925 | 0.080 | 20 | 3674438 | 3 prime UTR variant | C/T | snv | 0.47 |
|
0.020 | 1.000 | 2 | 2009 | 2018 | ||||||||
|
0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv |
|
0.020 | 0.500 | 2 | 2010 | 2012 | |||||||||
|
0.925 | 0.080 | 20 | 3669156 | intron variant | G/A;C | snv |
|
0.020 | 1.000 | 2 | 2013 | 2019 | |||||||||
|
1.000 | 0.080 | 20 | 3682004 | start lost | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 |