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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
12 | 0.776 | 0.120 | 2 | 29220830 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.851 | 0.120 | 14 | 73192840 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 6 | 104958399 | intron variant | A/C | snv | 0.10 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.827 | 0.120 | 17 | 35003131 | 3 prime UTR variant | A/C | snv | 0.66 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.080 | 1 | 7984930 | missense variant | A/C | snv | 1.4E-04 | 5.9E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.080 | 2 | 15938513 | non coding transcript exon variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.200 | 1 | 26428582 | 3 prime UTR variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
14 | 0.763 | 0.240 | 2 | 29220831 | missense variant | A/C;G;T | snv | 0.100 | 1.000 | 15 | 2008 | 2019 | |||||
|
17 | 0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv | 0.050 | 1.000 | 5 | 1998 | 2013 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.080 | 22 | 28689164 | missense variant | A/C;G;T | snv | 1.3E-05; 7.3E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
20 | 0.701 | 0.280 | 17 | 7675125 | missense variant | A/C;G;T | snv | 0.010 | < 0.001 | 1 | 2001 | 2001 | |||||
|
4 | 0.882 | 0.080 | 1 | 114716848 | upstream gene variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
38 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.790 | 0.120 | 17 | 51161744 | missense variant | A/G | snv | 6.0E-05 | 7.0E-05 | 0.080 | 1.000 | 8 | 1995 | 2018 | |||
|
8 | 0.827 | 0.200 | 11 | 8231306 | intron variant | A/G | snv | 0.42 | 0.050 | 1.000 | 5 | 2015 | 2020 | ||||
|
3 | 0.882 | 0.080 | 11 | 8221479 | downstream gene variant | A/G | snv | 0.49 | 0.040 | 1.000 | 4 | 2016 | 2020 | ||||
|
4 | 0.851 | 0.160 | 6 | 22139775 | intron variant | A/G | snv | 0.62 | 0.040 | 1.000 | 4 | 2008 | 2017 | ||||
|
15 | 0.732 | 0.160 | 21 | 31663857 | missense variant | A/G | snv | 0.030 | 1.000 | 3 | 1999 | 2007 | |||||
|
5 | 0.827 | 0.200 | 8 | 24944767 | intergenic variant | A/G | snv | 0.70 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2014 | 2015 | |||
|
3 | 0.882 | 0.080 | 2 | 214809617 | 5 prime UTR variant | A/G | snv | 0.73 | 0.74 | 0.020 | 1.000 | 2 | 2018 | 2019 | |||
|
5 | 0.851 | 0.080 | 17 | 51171503 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 1995 | 1999 | |||||
|
5 | 0.851 | 0.160 | 20 | 4699870 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 1997 | 2000 |