| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.080 | 21 | 25891790 | missense variant | C/T | snv |
|
0.730 | 1.000 | 23 | 1991 | 2019 | |||||||||
|
0.851 | 0.080 | 21 | 25891783 | missense variant | A/C | snv |
|
0.710 | 1.000 | 21 | 1991 | 2005 | |||||||||
|
0.925 | 0.080 | 21 | 25897605 | missense variant | C/G;T | snv |
|
0.720 | 1.000 | 21 | 1991 | 2019 | |||||||||
|
0.882 | 0.080 | 21 | 25891787 | missense variant | T/A;C | snv |
|
0.700 | 1.000 | 20 | 1991 | 2004 | |||||||||
|
0.882 | 0.080 | 21 | 25891793 | missense variant | T/C | snv |
|
0.700 | 1.000 | 20 | 1991 | 2004 | |||||||||
|
0.925 | 0.080 | 11 | 78380104 | intron variant | C/A | snv | 0.24 |
|
0.900 | 0.750 | 12 | 2007 | 2018 | ||||||||
|
0.851 | 0.080 | 1 | 207611623 | intron variant | A/G | snv | 0.74 |
|
0.880 | 1.000 | 11 | 2009 | 2017 | ||||||||
|
1.000 | 0.080 | 19 | 44898409 | intron variant | A/G | snv | 0.36 |
|
0.800 | 1.000 | 10 | 2009 | 2019 | ||||||||
|
1.000 | 0.080 | 19 | 44825957 | downstream gene variant | T/G | snv | 0.28 |
|
0.800 | 1.000 | 9 | 2009 | 2019 | ||||||||
|
0.925 | 0.080 | 11 | 121564878 | intron variant | T/A;C | snv |
|
0.830 | 1.000 | 8 | 2013 | 2019 | |||||||||
|
1.000 | 0.080 | 2 | 127135234 | regulatory region variant | C/T | snv | 0.39 |
|
0.820 | 1.000 | 8 | 2013 | 2019 | ||||||||
|
0.882 | 0.080 | 10 | 49616573 | missense variant | G/A | snv | 0.21 | 0.18 |
|
0.070 | 0.857 | 7 | 2005 | 2018 | |||||||
|
0.851 | 0.080 | 11 | 86077309 | regulatory region variant | C/T | snv | 0.71 |
|
0.760 | 0.857 | 7 | 2011 | 2019 | ||||||||
|
0.851 | 0.080 | 12 | 9079672 | missense variant | T/C | snv | 0.31 | 0.33 |
|
0.070 | 0.714 | 7 | 1999 | 2014 | |||||||
|
1.000 | 0.080 | 11 | 86156833 | downstream gene variant | A/G | snv | 0.70 |
|
0.800 | 1.000 | 6 | 2011 | 2019 | ||||||||
|
0.925 | 0.080 | 7 | 143413669 | intron variant | G/A | snv | 0.42 |
|
0.810 | 1.000 | 6 | 2011 | 2019 | ||||||||
|
1.000 | 0.080 | 19 | 1056493 | missense variant | G/C;T | snv | 0.84; 4.1E-06 |
|
0.850 | 0.833 | 6 | 2011 | 2019 | ||||||||
|
0.851 | 0.080 | 8 | 27610169 | intron variant | C/G;T | snv |
|
0.820 | 1.000 | 6 | 2013 | 2019 | |||||||||
|
1.000 | 0.080 | 6 | 41161469 | missense variant | C/A;T | snv | 7.6E-03 |
|
0.740 | 0.800 | 5 | 2015 | 2019 | ||||||||
|
0.925 | 0.080 | 7 | 100406823 | intron variant | C/A;T | snv | 4.0E-06; 0.74 |
|
0.830 | 1.000 | 5 | 2013 | 2019 | ||||||||
|
0.851 | 0.080 | 11 | 121577381 | synonymous variant | T/G | snv | 0.32 | 0.23 |
|
0.050 | 1.000 | 5 | 2009 | 2016 | |||||||
|
1.000 | 0.080 | 6 | 41159805 | missense variant | G/A | snv | 4.9E-03 | 1.8E-03 |
|
0.050 | 1.000 | 5 | 2016 | 2019 | |||||||
|
1.000 | 0.080 | 19 | 44857967 | intron variant | G/A | snv | 0.30 |
|
0.800 | 1.000 | 5 | 2009 | 2019 | ||||||||
|
0.882 | 0.080 | 2 | 127132061 | intergenic variant | G/A | snv | 0.28 |
|
0.820 | 1.000 | 5 | 2011 | 2017 | ||||||||
|
1.000 | 0.080 | 6 | 32610753 | intergenic variant | C/A | snv | 0.74 |
|
0.810 | 1.000 | 5 | 2013 | 2019 |