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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 20 | 57565924 | 3 prime UTR variant | T/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1 | 12011623 | 3 prime UTR variant | A/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 11825688 | 3 prime UTR variant | C/T | snv | 0.12 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 10319881 | intron variant | A/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 0.925 | 0.080 | 20 | 49372368 | 3 prime UTR variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
24 | 0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 9 | 10337976 | intron variant | T/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 69217077 | intron variant | G/A | snv | 0.58 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 0.882 | 0.200 | 11 | 2147784 | missense variant | A/G | snv | 0.49 | 0.40 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1 | 247448993 | 3 prime UTR variant | C/T | snv | 0.55 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||
|
5 | 3 | 129615390 | intergenic variant | C/A | snv | 0.63 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 10341235 | intron variant | C/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
11 | 0.790 | 0.280 | 10 | 88316086 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.120 | 1 | 119975336 | intron variant | G/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.882 | 0.120 | 9 | 28414341 | intron variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
18 | 0.724 | 0.280 | 12 | 10160849 | missense variant | C/G | snv | 0.11 | 0.13 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
10 | 0.776 | 0.360 | 10 | 92703125 | intergenic variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
19 | 0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.851 | 0.120 | 20 | 44406090 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
12 | 0.763 | 0.280 | 1 | 65621409 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.882 | 0.120 | 10 | 12286011 | intergenic variant | A/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 5 | 42827999 | intron variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
9 | 1.000 | 0.080 | 2 | 164672366 | intron variant | C/T | snv | 0.47 | 0.010 | 1.000 | 1 | 2018 | 2018 |