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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.120 | 6 | 55277539 | missense variant | A/G;T | snv | 0.84; 4.0E-06 | 0.050 | 0.400 | 5 | 2015 | 2020 | ||||
|
5 | 0.851 | 0.120 | 4 | 99127263 | missense variant | T/C | snv | 0.76 | 0.75 | 0.020 | 1.000 | 2 | 2010 | 2018 | |||
|
4 | 0.925 | 0.120 | 4 | 99144358 | intron variant | T/G | snv | 0.49 | 0.020 | 0.500 | 2 | 2018 | 2020 | ||||
|
1 | 1.000 | 0.040 | 14 | 41334088 | intergenic variant | A/G | snv | 0.19 | 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 | < 0.001 | 1 | 2011 | 2011 | |||
|
4 | 0.851 | 0.080 | 4 | 55514317 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 7 | 31076553 | intron variant | G/A | snv | 0.45 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 3 | 155118765 | missense variant | G/A;C | snv | 1.6E-03 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
5 | 0.882 | 0.040 | 8 | 97154685 | intergenic variant | T/C | snv | 0.75 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.040 | 1 | 3167148 | intron variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 6 | 55266339 | intron variant | A/G | snv | 0.89 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 55218009 | intron variant | T/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 |