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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 9 | 4594919 | intron variant | C/G | snv | 0.72 | 0.050 | 0.800 | 5 | 2010 | 2019 | ||||
|
2 | 0.925 | 0.040 | 9 | 4582082 | intron variant | C/G;T | snv | 0.040 | 1.000 | 4 | 2006 | 2019 | |||||
|
4 | 0.851 | 0.120 | 21 | 33029641 | intron variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2007 | 2019 | |||||
|
3 | 0.882 | 0.040 | 17 | 30228407 | intron variant | G/C | snv | 0.14 | 0.020 | 0.500 | 2 | 2015 | 2018 | ||||
|
1 | 1.000 | 0.040 | 9 | 4572480 | intron variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2007 | 2019 | |||||
|
4 | 0.882 | 0.040 | 5 | 63965502 | intron variant | C/T | snv | 0.58 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 12 | 61858476 | intron variant | A/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 18 | 28070318 | intron variant | T/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 15 | 50660473 | intron variant | T/C | snv | 7.3E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 18 | 28171702 | intron variant | G/A | snv | 0.48 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.040 | 3 | 8761057 | intron variant | T/C | snv | 0.45 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 6 | 101885466 | intron variant | G/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.040 | 11 | 27654165 | intron variant | C/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 101869470 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 14 | 59440374 | intron variant | A/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 59237566 | intron variant | C/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.200 | 6 | 31547563 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.040 | 22 | 19940569 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 18 | 73963859 | intron variant | T/C | snv | 0.19 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.040 | 22 | 19940569 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
23 | 0.701 | 0.200 | 3 | 8760542 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 3 | 8755399 | intron variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 3 | 8759154 | intron variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 14 | 77817693 | intron variant | A/G | snv | 0.86 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 9 | 85016119 | intron variant | C/T | snv | 0.93 | 0.010 | 1.000 | 1 | 2008 | 2008 |