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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.160 | 11 | 64591814 | synonymous variant | C/T | snv | 0.57 | 0.51 | 0.020 | 1.000 | 2 | 2015 | 2018 | |||
|
5 | 0.827 | 0.240 | 11 | 64592802 | synonymous variant | T/C | snv | 0.57 | 0.51 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 11 | 64598471 | intron variant | T/A;C | snv | 6.5E-06; 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.763 | 0.280 | 11 | 18269774 | synonymous variant | T/C | snv | 0.42 | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
24 | 0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.040 | 11 | 64600390 | missense variant | T/C;G | snv | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.827 | 0.200 | 4 | 9920543 | missense variant | C/T | snv | 0.24 | 0.29 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
56 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 0.800 | 1.000 | 10 | 2010 | 2019 | ||||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.040 | 1.000 | 4 | 2007 | 2013 | |||
|
1 | 1.000 | 0.040 | 11 | 64591802 | missense variant | C/A;T | snv | 4.0E-06; 3.7E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
8 | 0.790 | 0.160 | 5 | 139379813 | missense variant | C/A;G;T | snv | 4.0E-06; 2.7E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
3 | 1.000 | 0.040 | 20 | 54028628 | missense variant | C/A;T | snv | 1.1E-02; 8.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
25 | 0.672 | 0.440 | 6 | 46709361 | missense variant | C/A | snv | 4.5E-03 | 1.3E-03 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
4 | 1.000 | 0.040 | 15 | 53705141 | missense variant | T/G | snv | 3.5E-03 | 1.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 1.000 | 0.040 | 20 | 58903791 | splice region variant | C/G;T | snv | 4.0E-06; 2.3E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 64593570 | intron variant | G/A | snv | 9.4E-04 | 2.4E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 1.000 | 0.040 | 16 | 69647162 | missense variant | G/A | snv | 8.2E-04 | 6.7E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.040 | 16 | 20341262 | missense variant | G/A;T | snv | 7.4E-04; 1.2E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 4 | 88131805 | stop gained | G/A | snv | 4.0E-04 | 1.2E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 7 | 73478187 | missense variant | T/C | snv | 3.3E-04 | 3.5E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.925 | 0.120 | 4 | 9942000 | missense variant | C/G;T | snv | 4.0E-05; 3.2E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 |