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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 16 | 83940313 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
8 | 0.807 | 0.240 | 8 | 127081052 | non coding transcript exon variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.742 | 0.160 | 19 | 33041394 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.040 | 0.750 | 4 | 2013 | 2017 | ||||
|
4 | 0.882 | 0.160 | X | 133303309 | missense variant | G/A | snv | 0.33 | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.120 | 2 | 55080510 | 5 prime UTR variant | C/A | snv | 9.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
31 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
43 | 0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
23 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 1995 | 1995 | |||||
|
1 | 1.000 | 0.120 | 6 | 29942921 | missense variant | G/A | snv | 6.1E-02 | 9.0E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
24 | 0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.724 | 0.160 | 10 | 8659256 | upstream gene variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.742 | 0.200 | 10 | 61963818 | intron variant | C/T | snv | 0.69 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.827 | 0.200 | 11 | 69227200 | intergenic variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.160 | 11 | 72814066 | upstream gene variant | C/A | snv | 0.50 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 3 | 128319530 | intron variant | C/A | snv | 0.43 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
15 | 0.763 | 0.280 | 10 | 46046326 | 5 prime UTR variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.160 | 18 | 35344446 | 5 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.200 | 19 | 46704397 | splice region variant | G/A | snv | 0.17 | 0.16 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.200 | 6 | 140848688 | intron variant | A/G | snv | 8.5E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 14 | 68295488 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.851 | 0.200 | 12 | 50819982 | 3 prime UTR variant | T/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 |