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 | 0.080 | 8 | 32488779 | intron variant | G/A | snv | 0.62 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.200 | 17 | 34253212 | upstream gene variant | T/A | snv | 0.85 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 22 | 23896636 | intron variant | G/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.807 | 0.280 | 17 | 70175691 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
5 | 0.851 | 0.240 | 8 | 81478525 | 3 prime UTR variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.120 | 16 | 82148499 | 3 prime UTR variant | T/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.807 | 0.320 | 3 | 186856286 | 3 prime UTR variant | C/T | snv | 9.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.763 | 0.400 | 12 | 6044368 | missense variant | T/C;G | snv | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 2 | 68425042 | intergenic variant | C/A | snv | 0.55 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 1 | 47918069 | intron variant | A/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
27 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 10 | 17391921 | intron variant | C/T | snv | 5.4E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 5 | 42721976 | downstream gene variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 1.000 | 0.080 | 2 | 26691496 | upstream gene variant | C/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 5 | 156327182 | 5 prime UTR variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.080 | 1 | 70865815 | missense variant | A/G | snv | 0.94 | 0.94 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
14 | 0.882 | 0.160 | 19 | 44892009 | intron variant | G/A | snv | 0.69 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 19 | 39409277 | 3 prime UTR variant | TT/-;TTT | delins | 0.11 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
16 | 0.716 | 0.440 | 1 | 65610269 | missense variant | G/C;T | snv | 0.16; 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 |