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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.810 | 1.000 | 2 | 2018 | 2019 | |||
|
2 | 0.925 | 0.080 | 4 | 4863139 | frameshift variant | -/TA | delins | 0.710 | 1.000 | 2 | 1996 | 2014 | |||||
|
1 | 1.000 | 0.080 | X | 70033470 | missense variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2009 | 2014 | |||||
|
1 | 1.000 | 0.080 | 14 | 36663072 | stop gained | C/A | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
8 | 0.776 | 0.160 | 2 | 143201176 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.776 | 0.160 | 2 | 88438931 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.776 | 0.160 | 3 | 71414748 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.120 | X | 70035527 | missense variant | T/C | snv | 1.1E-05 | 3.0E-05 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
8 | 0.776 | 0.160 | 1 | 201111170 | intron variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.776 | 0.160 | X | 69564858 | downstream gene variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.776 | 0.160 | 17 | 67718094 | splice region variant | G/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
10 | 0.776 | 0.400 | 3 | 189868624 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
8 | 0.776 | 0.160 | 4 | 108350621 | TF binding site variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
46 | 0.695 | 0.400 | 10 | 129957324 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
14 | 0.790 | 0.160 | X | 69616488 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 10 | 52313141 | intron variant | C/T | snv | 0.12 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
9 | 0.807 | 0.160 | 17 | 65536495 | stop gained | G/A | snv | 0.020 | 1.000 | 2 | 2004 | 2016 | |||||
|
5 | 0.851 | 0.080 | 14 | 36666548 | missense variant | G/C | snv | 0.36 | 0.33 | 0.020 | 0.500 | 2 | 2011 | 2014 | |||
|
6 | 0.807 | 0.200 | 17 | 65536472 | stop gained | C/G;T | snv | 0.020 | 1.000 | 2 | 2011 | 2015 | |||||
|
2 | 0.925 | 0.080 | 4 | 4863211 | 3 prime UTR variant | C/T | snv | 1.5E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
10 | 0.763 | 0.200 | 2 | 218882368 | stop gained | C/A | snv | 6.2E-04 | 8.5E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.240 | 8 | 38418249 | missense variant | C/A;T | snv | 1.2E-05; 2.0E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 17 | 50195463 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 14 | 36666547 | missense variant | C/G;T | snv | 4.9E-06; 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.120 | X | 70035446 | missense variant | C/T | snv | 5.5E-06 | 9.6E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 |