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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.160 | 17 | 34285425 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.120 | 17 | 34286113 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.120 | 3 | 124206748 | intron variant | T/A | snv | 6.5E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 13 | 110467049 | missense variant | G/C | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.882 | 0.160 | 3 | 124300955 | intron variant | C/A;T | snv | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.120 | 13 | 110449695 | synonymous variant | G/A | snv | 0.31 | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.120 | 13 | 110445879 | synonymous variant | C/T | snv | 0.51 | 0.49 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.120 | 19 | 15181626 | synonymous variant | T/C | snv | 0.80 | 0.77 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
2 | 1.000 | 0.120 | 17 | 34284427 | upstream gene variant | A/G | snv | 0.86 | 0.010 | 1.000 | 1 | 2017 | 2017 |