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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.807 | 0.120 | 1 | 162065484 | upstream gene variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.120 | 1 | 162060117 | intergenic variant | A/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 11 | 17470170 | missense variant | T/C | snv | 2.5E-04 | 5.6E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.120 | 7 | 92099838 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 92002212 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 92045186 | missense variant | T/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 113373391 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
1 | 1.000 | 0.120 | 4 | 113353494 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 113354767 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 113356741 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 1 | 203700807 | missense variant | T/C | snv | 4.0E-06 | 3.5E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
6 | 0.807 | 0.320 | 12 | 2504944 | stop gained | G/A;T | snv | 0.710 | 1.000 | 12 | 2004 | 2016 | |||||
|
5 | 0.827 | 0.200 | 12 | 2504526 | missense variant | G/A | snv | 0.700 | 1.000 | 6 | 2005 | 2016 | |||||
|
1 | 1.000 | 0.120 | 12 | 2566465 | missense variant | C/T | snv | 0.710 | 1.000 | 2 | 2015 | 2019 | |||||
|
1 | 1.000 | 0.120 | 12 | 2593252 | missense variant | C/G;T | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.320 | 12 | 2504538 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 12 | 2688616 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 12 | 2679529 | missense variant | G/A | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 12 | 2688601 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.120 | 14 | 90404691 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.120 | 14 | 90404693 | missense variant | C/G;T | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.807 | 0.120 | 14 | 90404386 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.120 | 14 | 90404482 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.120 | 2 | 47160802 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.807 | 0.120 | 2 | 47161851 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 |