Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 5 | 150733475 | start lost | T/C;G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | X | 118542729 | missense variant | A/C | snv | 9.5E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.040 | 1 | 97699507 | missense variant | G/A;C | snv | 3.6E-05; 1.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.827 | 0.200 | 18 | 31405413 | intron variant | G/A | snv | 0.74 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 2 | 162183437 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.080 | 2 | 162224488 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
6 | 0.807 | 0.160 | 4 | 154585795 | missense variant | T/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
4 | 0.851 | 0.160 | 18 | 32231169 | intron variant | C/T | snv | 1.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.790 | 0.160 | 9 | 121310819 | missense variant | G/A;T | snv | 4.0E-06 | 0.060 | 1.000 | 6 | 1991 | 2018 | ||||
|
9 | 0.790 | 0.240 | 9 | 121312479 | synonymous variant | G/A | snv | 8.0E-05 | 3.5E-05 | 0.030 | 1.000 | 3 | 2002 | 2007 | |||
|
4 | 0.851 | 0.200 | 9 | 121321384 | synonymous variant | G/T | snv | 0.030 | 1.000 | 3 | 2002 | 2007 | |||||
|
1 | 1.000 | 0.040 | 9 | 121312342 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.240 | 9 | 121302059 | missense variant | G/A | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 9 | 121327419 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.807 | 0.240 | 12 | 21357370 | intron variant | T/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
18 | 0.732 | 0.240 | 16 | 1792325 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.040 | 1 | 32014083 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 2 | 8779781 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
2 | 0.925 | 0.120 | 2 | 127129099 | intergenic variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.851 | 0.200 | 12 | 69350215 | missense variant | T/A;C | snv | 0.030 | 1.000 | 3 | 2014 | 2019 | |||||
|
9 | 0.827 | 0.320 | 12 | 69350234 | missense variant | C/A | snv | 4.2E-02 | 4.3E-02 | 0.020 | 1.000 | 2 | 2005 | 2006 | |||
|
7 | 0.807 | 0.200 | 12 | 69350192 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
3 | 0.882 | 0.200 | 12 | 69350194 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 12 | 69353160 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
72 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.100 | 0.931 | 29 | 1998 | 2018 |