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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.733 | 15 | 2006 | 2020 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.714 | 14 | 2006 | 2019 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.090 | 0.778 | 9 | 1999 | 2016 | |||
|
7 | 0.827 | 0.080 | 9 | 4576680 | synonymous variant | T/C | snv | 0.36 | 0.38 | 0.060 | 1.000 | 6 | 2007 | 2019 | |||
|
41 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 0.060 | 0.833 | 6 | 2007 | 2018 | ||||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.050 | 0.600 | 5 | 2007 | 2018 | ||||
|
1 | 1.000 | 0.040 | 9 | 4594919 | intron variant | C/G | snv | 0.72 | 0.050 | 0.800 | 5 | 2010 | 2019 | ||||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.050 | 0.800 | 5 | 2003 | 2018 | |||
|
2 | 0.925 | 0.040 | 9 | 4582082 | intron variant | C/G;T | snv | 0.040 | 1.000 | 4 | 2006 | 2019 | |||||
|
1 | 1.000 | 0.040 | 9 | 4564432 | synonymous variant | G/A | snv | 0.39 | 0.35 | 0.030 | 1.000 | 3 | 2007 | 2019 | |||
|
5 | 0.851 | 0.160 | 17 | 30237152 | upstream gene variant | G/A | snv | 6.3E-02 | 0.030 | 0.667 | 3 | 2008 | 2018 | ||||
|
2 | 0.925 | 0.040 | 21 | 33027093 | synonymous variant | A/G | snv | 0.51 | 0.53 | 0.030 | 1.000 | 3 | 2007 | 2019 | |||
|
4 | 0.851 | 0.120 | 21 | 33029641 | intron variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2007 | 2019 | |||||
|
1 | 1.000 | 0.040 | 9 | 4482706 | intergenic variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2013 | 2013 | |||||
|
4 | 0.925 | 0.040 | 21 | 33028155 | 3 prime UTR variant | C/A | snv | 0.41 | 0.020 | 1.000 | 2 | 2007 | 2015 | ||||
|
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 | 11 | 27719545 | 5 prime UTR variant | G/A | snv | 0.40 | 0.020 | 1.000 | 2 | 2014 | 2020 | ||||
|
3 | 0.925 | 0.120 | 17 | 30211356 | missense variant | T/C;G | snv | 7.4E-04 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
2 | 0.925 | 0.080 | 9 | 4586808 | 3 prime UTR variant | G/C | snv | 0.28 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
62 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
1 | 1.000 | 0.040 | 9 | 4572480 | intron variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2007 | 2019 | |||||
|
2 | 1.000 | 0.040 | 3 | 184056974 | missense variant | C/A;T | snv | 0.45; 4.0E-06 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
36 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2018 | ||||
|
1 | 1.000 | 0.040 | 2 | 118939624 | upstream gene variant | C/A | snv | 6.4E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 3 | 184038034 | missense variant | G/A;C;T | snv | 0.66; 3.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 |