| 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 | 0.120 | 20 | 33410203 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 3 | 38555720 | missense variant | T/C | snv | 1.6E-05 | 3.5E-05 |
|
0.700 | 0 | ||||||||||
|
0.827 | 0.120 | 7 | 151560611 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.763 | 0.120 | 11 | 2527959 | missense variant | A/G | snv |
|
0.050 | 1.000 | 5 | 2003 | 2018 | |||||||||
|
0.882 | 0.160 | 1 | 156130741 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.776 | 0.200 | 1 | 156136094 | missense variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 |
|
0.050 | 1.000 | 5 | 2004 | 2015 | |||||||
|
0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 |
|
0.030 | 1.000 | 3 | 2004 | 2011 | ||||||||
|
0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
1.000 | 0.080 | 7 | 150955422 | missense variant | G/A;C | snv | 7.1E-05 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.882 | 0.120 | 21 | 34370557 | missense variant | C/A;T | snv | 4.0E-06; 1.3E-04 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.080 | 17 | 70175316 | missense variant | G/A | snv | 1.6E-04 | 7.0E-05 |
|
0.020 | 1.000 | 2 | 2005 | 2009 | |||||||
|
0.732 | 0.240 | 21 | 34449523 | missense variant | T/C | snv | 0.64 | 2.0E-04 |
|
0.100 | 1.000 | 11 | 2006 | 2019 | |||||||
|
0.752 | 0.240 | 4 | 110789013 | intergenic variant | C/T | snv | 0.18 |
|
0.900 | 0.971 | 35 | 2007 | 2019 | ||||||||
|
0.807 | 0.200 | 4 | 110799605 | downstream gene variant | T/G | snv | 0.86 |
|
0.900 | 0.933 | 15 | 2007 | 2019 | ||||||||
|
1.000 | 0.080 | 4 | 110793733 | upstream gene variant | C/T | snv | 0.15 |
|
0.800 | 1.000 | 3 | 2007 | 2017 | ||||||||
|
1.000 | 0.080 | 4 | 110744627 | intergenic variant | T/C | snv | 0.70 |
|
0.710 | 1.000 | 3 | 2007 | 2015 | ||||||||
|
1.000 | 0.080 | 4 | 110807458 | intergenic variant | A/G | snv | 0.47 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
1.000 | 0.080 | 4 | 110719897 | intergenic variant | A/G | snv | 0.37 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
0.882 | 0.080 | 11 | 99622442 | intron variant | C/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.776 | 0.160 | 21 | 34449382 | missense variant | C/T | snv | 9.4E-03 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 11 | 2527981 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 11 | 2445138 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 |