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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 8 | 129591389 | intron variant | C/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 2 | 144435759 | intron variant | C/T | snv | 6.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 2 | 110852366 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 2 | 111092082 | intron variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 92644264 | intron variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 7 | 44831334 | intron variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 19 | 4061546 | intron variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 19 | 18526808 | upstream gene variant | C/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
34 | 0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 | 0.700 | 1.000 | 2 | 2016 | 2018 | |||
|
15 | 0.790 | 0.200 | X | 154536002 | missense variant | C/T | snv | 9.1E-03 | 3.6E-02 | 0.700 | 1.000 | 2 | 2013 | 2017 | |||
|
11 | 0.776 | 0.280 | 17 | 42314074 | 3 prime UTR variant | G/A | snv | 0.48 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 10 | 44906863 | intron variant | G/A | snv | 0.55 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1 | 203681817 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
7 | 9 | 4852599 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 9 | 4856877 | intron variant | G/A | snv | 0.15 | 0.800 | 1.000 | 2 | 2009 | 2017 | ||||||
|
4 | 11 | 19203130 | intron variant | T/A | snv | 0.62 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 12 | 52068035 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 12 | 4223312 | intergenic variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 117708521 | regulatory region variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 8600592 | upstream gene variant | C/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 6 | 41953503 | intron variant | G/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 11 | 4139451 | upstream gene variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 17 | 39590106 | intergenic variant | A/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 19 | 12890733 | upstream gene variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.040 | 22 | 32479203 | start lost | G/A;C | snv | 0.45; 8.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 |