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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 1.000 | 0.080 | 9 | 133278860 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
22 | 0.851 | 0.160 | 9 | 133278431 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2011 | 2018 | |||||
|
2 | 14 | 24403003 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
3 | 7 | 21571781 | intron variant | G/A;C;T | snv | 4.4E-06; 0.17; 4.4E-06 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
14 | 0.925 | 0.120 | 2 | 21014672 | intron variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2012 | 2018 | |||||
|
2 | 19 | 11139463 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2018 | |||||||
|
3 | 11 | 126380785 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
2 | 6 | 16126703 | upstream gene variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
5 | 1 | 26958422 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2015 | 2018 | |||||||
|
2 | 9 | 133279427 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2013 | 2019 | |||||||
|
2 | 19 | 2814183 | 3 prime UTR variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
2 | 5 | 157057207 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 7 | 87447271 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 8 | 58399138 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
11 | 0.790 | 0.200 | 2 | 21002881 | stop gained | C/A;T | snv | 8.0E-06; 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 17 | 75794012 | 3 prime UTR variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 10 | 35777511 | upstream gene variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
5 | 1 | 62606594 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 11 | 18632410 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
5 | 1 | 62652525 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 1 | 20074498 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 11 | 18617620 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 11 | 18624296 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
4 | 1.000 | 0.120 | 1 | 55060755 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
10 | 1.000 | 0.080 | 2 | 164672114 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |