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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 5 | 60206693 | intron variant | A/G | snv | 0.57 | 0.050 | 0.800 | 5 | 2005 | 2020 | ||||
|
2 | 1.000 | 0.080 | 13 | 30734192 | intron variant | T/A;G | snv | 0.040 | 0.750 | 4 | 2011 | 2019 | |||||
|
74 | 0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 | 0.040 | 1.000 | 4 | 2011 | 2017 | ||||
|
28 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 0.040 | 1.000 | 4 | 2006 | 2019 | ||||
|
12 | 0.752 | 0.240 | 4 | 110789013 | intergenic variant | C/T | snv | 0.18 | 0.730 | 0.750 | 4 | 2008 | 2016 | ||||
|
22 | 0.695 | 0.280 | 9 | 22115960 | intron variant | A/G | snv | 0.64 | 0.040 | 0.750 | 4 | 2013 | 2020 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.040 | 1.000 | 4 | 2013 | 2019 | |||
|
8 | 0.807 | 0.200 | 4 | 110799605 | downstream gene variant | T/G | snv | 0.86 | 0.030 | 0.667 | 3 | 2008 | 2016 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.030 | 0.667 | 3 | 2010 | 2015 | ||||
|
10 | 0.776 | 0.320 | 13 | 30737959 | intron variant | A/T | snv | 0.52 | 0.030 | 0.667 | 3 | 2015 | 2019 | ||||
|
1 | 1.000 | 0.080 | 12 | 111795214 | intron variant | T/C | snv | 0.53 | 0.720 | 1.000 | 3 | 2014 | 2018 | ||||
|
22 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 0.030 | 1.000 | 3 | 2009 | 2019 | ||||
|
2 | 1.000 | 0.080 | 6 | 39302834 | intron variant | C/A | snv | 0.030 | 1.000 | 3 | 2010 | 2014 | |||||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.030 | 1.000 | 3 | 2006 | 2020 | ||||
|
2 | 0.925 | 0.120 | 5 | 60487490 | intron variant | C/T | snv | 0.13 | 0.030 | 1.000 | 3 | 2008 | 2017 | ||||
|
41 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.030 | 1.000 | 3 | 2009 | 2014 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.030 | < 0.001 | 3 | 2006 | 2015 | |||||
|
25 | 0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 | 0.720 | 1.000 | 3 | 2015 | 2016 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.030 | 1.000 | 3 | 2007 | 2019 | |||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.030 | 1.000 | 3 | 2010 | 2019 | |||
|
5 | 0.851 | 0.200 | 4 | 110787733 | intergenic variant | G/A | snv | 0.15 | 0.030 | 1.000 | 3 | 2010 | 2016 | ||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.030 | 0.667 | 3 | 2006 | 2019 | |||||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.030 | 1.000 | 3 | 2013 | 2017 | |||
|
15 | 0.732 | 0.280 | 7 | 19009765 | regulatory region variant | G/A | snv | 0.19 | 0.710 | 0.667 | 3 | 2015 | 2018 | ||||
|
5 | 0.925 | 0.080 | 14 | 61457521 | missense variant | G/A | snv | 3.1E-02 | 1.6E-02 | 0.030 | 1.000 | 3 | 2009 | 2014 |