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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.030 | 1.000 | 3 | 2015 | 2019 | |||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.030 | 1.000 | 3 | 2010 | 2016 | ||||
|
40 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 0.030 | 1.000 | 3 | 2013 | 2015 | ||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2019 | 2020 | |||||
|
16 | 0.763 | 0.080 | 6 | 35599305 | intron variant | A/G | snv | 0.65 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
13 | 0.827 | 0.080 | 6 | 35678658 | intron variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2011 | 2019 | |||||
|
2 | 1.000 | 0.040 | 5 | 76968168 | intron variant | A/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.851 | 0.160 | 15 | 51257402 | intron variant | G/A | snv | 0.64 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 5 | 76971301 | intron variant | G/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
27 | 0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 1 | 31622570 | intron variant | T/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 10 | 67908257 | intron variant | G/T | snv | 0.47 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.790 | 0.120 | 17 | 45802681 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 12 | 21839392 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 0.925 | 0.080 | 4 | 120232669 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.790 | 0.320 | 2 | 112830725 | intron variant | C/T | snv | 0.29 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.827 | 0.160 | 4 | 55457430 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.851 | 0.120 | 7 | 87584585 | intron variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1 | 7811169 | intron variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 1.000 | 0.040 | 5 | 104734216 | intron variant | A/G | snv | 0.77 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 17 | 45829462 | intron variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
8 | 0.827 | 0.120 | 7 | 87544351 | intron variant | A/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 6 | 151875817 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2012 | 2012 |