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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 0.708 | 0.400 | 15 | 51210789 | 3 prime UTR variant | G/A | snv | 0.45 | 0.43 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.882 | 0.160 | 2 | 96115728 | missense variant | G/A | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2016 | ||||
|
1 | 1.000 | 0.040 | 2 | 237907946 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.120 | 1 | 70439117 | missense variant | G/T | snv | 0.28 | 0.24 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
4 | 0.882 | 0.160 | 4 | 3004316 | missense variant | C/A;G;T | snv | 0.36 | 0.030 | 1.000 | 3 | 2006 | 2016 | ||||
|
5 | 0.882 | 0.120 | 2 | 162147429 | missense variant | T/C | snv | 1.4E-05 | 0.020 | 1.000 | 2 | 1998 | 1999 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.050 | 1.000 | 5 | 2002 | 2017 | |||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.020 | 1.000 | 2 | 2010 | 2011 | ||||
|
19 | 0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 1 | 42153468 | synonymous variant | A/C;G;T | snv | 6.4E-05; 0.21; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.851 | 0.120 | 1 | 119514623 | missense variant | C/A | snv | 0.75 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.925 | 0.080 | 2 | 202565733 | 3 prime UTR variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 1.000 | 0.040 | 11 | 57238113 | upstream gene variant | T/C | snv | 0.73 | 0.020 | 1.000 | 2 | 2010 | 2016 | ||||
|
43 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.040 | 10 | 44370528 | 3 prime UTR variant | A/G | snv | 5.4E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
19 | 0.695 | 0.360 | 22 | 42130692 | missense variant | G/A | snv | 0.21 | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
24 | 0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 16054087 | intron variant | C/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 15 | 29326124 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
18 | 0.724 | 0.280 | 12 | 10160849 | missense variant | C/G | snv | 0.11 | 0.13 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.851 | 0.200 | 12 | 50819982 | 3 prime UTR variant | T/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.882 | 0.080 | 10 | 103086421 | 3 prime UTR variant | T/C | snv | 8.6E-02 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
3 | 0.882 | 0.120 | 11 | 128890715 | upstream gene variant | G/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.827 | 0.240 | 11 | 64592802 | synonymous variant | T/C | snv | 0.57 | 0.51 | 0.010 | 1.000 | 1 | 2012 | 2012 |