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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 10 | 106126497 | intergenic variant | C/T | snv | 0.10 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
16 | 0.776 | 0.400 | 19 | 1106616 | stop gained | T/A;C | snv | 4.2E-06; 0.58 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
36 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
8 | 0.851 | 0.160 | 2 | 127137039 | downstream gene variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.882 | 0.120 | 7 | 143330868 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.120 | X | 154031356 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.882 | 0.080 | 1 | 154571759 | missense variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2005 | 2008 | |||||
|
13 | 0.851 | 0.200 | MT | 15923 | non coding transcript exon variant | A/G | snv | 0.700 | 1.000 | 4 | 1993 | 2018 | |||||
|
6 | 0.851 | 0.120 | 16 | 1791387 | missense variant | G/A;C;T | snv | 1.6E-05; 8.1E-06; 8.1E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.790 | 0.200 | 4 | 184632307 | missense variant | C/G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.020 | 1.000 | 2 | 2007 | 2013 | |||
|
28 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 0.700 | 0 | ||||||
|
6 | 0.851 | 0.120 | 2 | 219250557 | missense variant | G/A;C | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.882 | 0.160 | 1 | 230716523 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.120 | 1 | 23367044 | missense variant | A/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
17 | 0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2000 | 2004 | |||||
|
11 | 0.763 | 0.160 | 21 | 25897626 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
18 | 0.724 | 0.280 | 21 | 26021917 | missense variant | T/G | snv | 8.2E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
19 | 0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.030 | 1.000 | 3 | 2007 | 2016 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.030 | 1.000 | 3 | 2007 | 2016 | ||||
|
6 | 0.827 | 0.080 | 11 | 27693337 | intron variant | T/C | snv | 0.34 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.807 | 0.120 | 11 | 27723312 | intron variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.200 | 8 | 33431749 | intron variant | G/A | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 |