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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
43 | 0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 | 0.900 | 1.000 | 15 | 2010 | 2018 | |||
|
18 | 0.790 | 0.160 | 15 | 78606381 | intron variant | C/A;T | snv | 0.810 | 1.000 | 7 | 2011 | 2018 | |||||
|
3 | 1.000 | 0.040 | 15 | 78606590 | intron variant | C/G | snv | 0.27 | 0.700 | 1.000 | 2 | 2015 | 2019 | ||||
|
3 | 1.000 | 0.040 | 15 | 78593856 | 3 prime UTR variant | C/T | snv | 0.24 | 0.700 | 1.000 | 2 | 2015 | 2019 | ||||
|
3 | 1.000 | 0.040 | 15 | 78608771 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.925 | 0.120 | 15 | 78603787 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 1.000 | 0.040 | 15 | 78608359 | intron variant | T/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.040 | 15 | 78608305 | intron variant | A/G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 1.000 | 0.040 | 15 | 78613835 | intron variant | A/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.040 | 15 | 78608566 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.040 | 15 | 78608308 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 1.000 | 0.040 | 15 | 78619330 | intron variant | G/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.040 | 15 | 78594605 | 3 prime UTR variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.040 | 15 | 78606661 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 1.000 | 0.040 | 15 | 78622192 | upstream gene variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.807 | 0.080 | 15 | 78622903 | upstream gene variant | C/A;T | snv | 0.030 | 1.000 | 3 | 2012 | 2014 | |||||
|
8 | 0.827 | 0.080 | 15 | 78599285 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.040 | 15 | 78593232 | missense variant | T/A;C | snv | 2.0E-02; 1.2E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
17 | 0.742 | 0.240 | 15 | 78618839 | synonymous variant | T/C | snv | 0.35 | 0.37 | 0.010 | 1.000 | 1 | 2016 | 2016 |