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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.790 | 1.000 | 10 | 2011 | 2019 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.040 | 1.000 | 4 | 2015 | 2019 | |||||
|
1 | 1.000 | 0.040 | 22 | 43928796 | intron variant | A/G | snv | 0.56 | 0.59 | 0.030 | 1.000 | 3 | 2012 | 2018 | |||
|
5 | 0.827 | 0.080 | 22 | 43995806 | intron variant | G/A | snv | 0.25 | 0.800 | 1.000 | 3 | 2012 | 2018 | ||||
|
10 | 0.790 | 0.160 | 22 | 43937814 | intron variant | T/G | snv | 0.20 | 0.810 | 1.000 | 3 | 2013 | 2018 | ||||
|
10 | 0.776 | 0.200 | 2 | 112013193 | intron variant | A/G | snv | 0.58 | 0.030 | 1.000 | 3 | 2016 | 2019 | ||||
|
16 | 0.776 | 0.200 | 8 | 125474167 | intron variant | A/G | snv | 0.49 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 4 | 99574331 | intron variant | G/T | snv | 0.26 | 0.020 | 1.000 | 2 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 22 | 43998522 | intron variant | C/T | snv | 0.20 | 0.810 | 1.000 | 2 | 2012 | 2018 | ||||
|
1 | 1.000 | 0.040 | 22 | 43964127 | intron variant | G/A | snv | 0.18 | 0.700 | 1.000 | 2 | 2012 | 2013 | ||||
|
1 | 1.000 | 0.040 | 3 | 148708086 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2009 | 2013 | |||||
|
5 | 0.827 | 0.120 | 8 | 11826954 | intron variant | A/C;G | snv | 0.56 | 0.820 | 1.000 | 2 | 2010 | 2014 | ||||
|
15 | 1.000 | 0.040 | 8 | 125469835 | intron variant | A/G | snv | 0.54 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
4 | 0.851 | 0.080 | 3 | 148717966 | intron variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2013 | 2016 | |||||
|
1 | 1.000 | 0.040 | 3 | 148712467 | intron variant | A/G | snv | 0.44 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
1 | 1.000 | 0.040 | 22 | 43942254 | intron variant | T/C;G | snv | 0.40 | 0.710 | 1.000 | 2 | 2013 | 2016 | ||||
|
5 | 0.882 | 0.040 | 8 | 9326721 | intron variant | G/A | snv | 0.87 | 0.710 | 1.000 | 2 | 2011 | 2014 | ||||
|
8 | 0.827 | 0.200 | 22 | 43932850 | intron variant | G/A | snv | 0.24 | 0.18 | 0.020 | 1.000 | 2 | 2015 | 2018 | |||
|
1 | 1.000 | 0.040 | 22 | 44002644 | intron variant | A/C;G | snv | 0.710 | 1.000 | 2 | 2013 | 2016 | |||||
|
2 | 0.925 | 0.040 | 22 | 43997195 | intron variant | C/T | snv | 0.47 | 0.710 | 1.000 | 2 | 2013 | 2016 | ||||
|
3 | 0.882 | 0.040 | 22 | 43958231 | intron variant | C/T | snv | 0.34 | 0.800 | 1.000 | 2 | 2013 | 2018 | ||||
|
3 | 0.925 | 0.080 | 7 | 21480514 | intron variant | G/A | snv | 0.75 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.763 | 0.360 | 3 | 12311699 | intron variant | C/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 8 | 139784177 | intron variant | T/C | snv | 0.39 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 11 | 74006029 | intron variant | G/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 |