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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 6 | 161973401 | missense variant | C/T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2002 | 2002 | ||||
|
3 | 0.925 | 0.120 | 1 | 180993146 | intron variant | A/G | snv | 0.56 | 0.810 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.120 | 3 | 39468795 | intron variant | -/CA | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 12 | 40237989 | missense variant | T/A;C | snv | 0.52 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 1 | 85137368 | downstream gene variant | A/G | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 1 | 221995092 | regulatory region variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 5 | 96979369 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 12 | 53394218 | intron variant | -/A | delins | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.120 | 6 | 161386823 | missense variant | C/G;T | snv | 0.16; 3.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.120 | 8 | 130063613 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 10 | 42845657 | intergenic variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 6 | 45531876 | intron variant | -/T | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 19 | 15272936 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 1 | 228397861 | intron variant | C/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 2 | 74378112 | missense variant | T/C | snv | 1.6E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.120 | 1 | 180983158 | intron variant | C/T | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 12 | 18636073 | intron variant | C/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 17 | 46010395 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.120 | 2 | 86817193 | intron variant | G/A | snv | 0.83 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 4 | 122557561 | intergenic variant | G/A | snv | 0.24 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 10 | 95384258 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.120 | 2 | 88595833 | non coding transcript exon variant | T/C | snv | 0.70 | 0.77 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.120 | 17 | 45709317 | intron variant | A/G | snv | 4.6E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 12 | 21314281 | intron variant | C/G | snv | 0.95 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.160 | 17 | 45998697 | intron variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 |