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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.724 | 0.480 | 10 | 67883321 | upstream gene variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2017 | 2019 | |||||
|
4 | 0.882 | 0.120 | 11 | 67490911 | missense variant | G/A | snv | 1.7E-03 | 1.1E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.120 | 10 | 55017264 | intron variant | T/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 13 | 26336975 | intron variant | G/A;T | snv | 5.4E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 10 | 20610679 | intergenic variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 11 | 67490391 | stop gained | A/G;T | snv | 3.6E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.851 | 0.160 | 11 | 64804546 | missense variant | T/C | snv | 0.94 | 0.90 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.200 | 10 | 67884201 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.790 | 0.320 | 10 | 67917073 | 3 prime UTR variant | T/C | snv | 2.4E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.200 | 11 | 113459052 | intron variant | A/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
22 | 0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 |