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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.200 | 2 | 106026098 | regulatory region variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 2 | 3470314 | intron variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
16 | 0.790 | 0.240 | 19 | 44888997 | 3 prime UTR variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.240 | 7 | 18658708 | intron variant | T/G | snv | 3.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.790 | 0.200 | 20 | 23635330 | missense variant | A/T | snv | 0.020 | 1.000 | 2 | 2000 | 2008 | |||||
|
9 | 0.763 | 0.160 | 21 | 25891796 | missense variant | C/T | snv | 9.5E-05 | 6.3E-05 | 0.020 | 1.000 | 2 | 2004 | 2017 | |||
|
13 | 0.742 | 0.280 | 21 | 25891856 | missense variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2004 | 2018 | |||||
|
15 | 0.752 | 0.280 | 18 | 31598632 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.882 | 0.160 | 21 | 25975185 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
3 | 0.882 | 0.200 | 21 | 26112137 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.120 | 18 | 76984810 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 0.827 | 0.200 | 9 | 104903619 | missense variant | G/C | snv | 4.8E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.200 | 21 | 26051053 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
25 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
3 | 0.882 | 0.160 | 18 | 31593025 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.790 | 0.240 | 14 | 73192647 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
8 | 0.790 | 0.240 | 21 | 25891858 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
4 | 0.851 | 0.160 | 14 | 73217210 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
8 | 0.776 | 0.200 | 1 | 207518704 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.827 | 0.200 | 21 | 26090015 | missense variant | G/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 |