| 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 | 1.000 | 24 | 1999 | 2018 | |||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.050 | 0.800 | 5 | 2001 | 2015 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.040 | 1.000 | 4 | 1999 | 2007 | |||||||||
|
0.724 | 0.280 | 16 | 56983380 | missense variant | A/G | snv | 2.6E-03 | 6.5E-04 |
|
0.030 | 0.667 | 3 | 1999 | 2018 | |||||||
|
0.683 | 0.320 | 17 | 80385145 | missense variant | G/A;C | snv | 2.6E-04; 8.0E-06 |
|
0.020 | 1.000 | 2 | 2018 | 2020 | ||||||||
|
0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 |
|
0.020 | 0.500 | 2 | 2008 | 2019 | ||||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.020 | 0.500 | 2 | 1997 | 1999 | |||||||
|
0.732 | 0.240 | 20 | 23048087 | missense variant | G/A;T | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||
|
0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.320 | 6 | 160738593 | missense variant | G/A | snv | 1.4E-03 | 3.5E-04 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||
|
0.827 | 0.160 | 18 | 31598602 | missense variant | G/A | snv | 7.9E-04 | 2.2E-04 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.160 | 1 | 169691640 | 3 prime UTR variant | A/G | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.280 | 18 | 31592902 | missense variant | G/A | snv | 5.1E-02 | 5.2E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 16 | 4015582 | non coding transcript exon variant | A/G | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
20 | 903001 | intron variant | T/G | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1.000 | 0.160 | 13 | 110192222 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.807 | 0.200 | 18 | 31598647 | missense variant | C/T | snv | 1.5E-03 | 1.7E-03 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
6 | 85334045 | intergenic variant | A/T | snv | 1.8E-02 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||||
|
1.000 | 0.040 | 5 | 77035624 | missense variant | G/A | snv | 1.0E-02 | 9.9E-03 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.040 | 15 | 67181297 | stop gained | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 |
|
0.010 | 1.000 | 1 | 2017 | 2017 |