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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv | 0.900 | 1.000 | 58 | 1991 | 2019 | |||||
|
8 | 0.790 | 0.240 | 21 | 25891858 | missense variant | G/C | snv | 0.760 | 1.000 | 26 | 1991 | 2016 | |||||
|
19 | 0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 | 0.900 | 0.913 | 23 | 2009 | 2018 | ||||
|
15 | 0.752 | 0.280 | 11 | 86157598 | downstream gene variant | T/C | snv | 0.70 | 0.900 | 0.826 | 23 | 2009 | 2019 | ||||
|
4 | 0.851 | 0.080 | 21 | 25891790 | missense variant | C/T | snv | 0.730 | 1.000 | 23 | 1991 | 2019 | |||||
|
23 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.100 | 0.955 | 22 | 1997 | 2020 | |||||
|
4 | 0.851 | 0.080 | 21 | 25891783 | missense variant | A/C | snv | 0.710 | 1.000 | 21 | 1991 | 2005 | |||||
|
2 | 0.925 | 0.080 | 21 | 25897605 | missense variant | C/G;T | snv | 0.720 | 1.000 | 21 | 1991 | 2019 | |||||
|
30 | 0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 | 0.900 | 0.950 | 20 | 2009 | 2019 | ||||
|
3 | 0.882 | 0.080 | 21 | 25891787 | missense variant | T/A;C | snv | 0.700 | 1.000 | 20 | 1991 | 2004 | |||||
|
3 | 0.882 | 0.080 | 21 | 25891793 | missense variant | T/C | snv | 0.700 | 1.000 | 20 | 1991 | 2004 | |||||
|
8 | 0.776 | 0.200 | 1 | 207518704 | intron variant | A/G;T | snv | 0.900 | 1.000 | 17 | 2009 | 2019 | |||||
|
8 | 0.851 | 0.160 | 19 | 51224706 | upstream gene variant | C/A | snv | 0.25 | 0.900 | 1.000 | 16 | 2011 | 2019 | ||||
|
3 | 0.882 | 0.120 | 10 | 103458495 | missense variant | AGC/GGT | mnv | 0.100 | 0.933 | 15 | 2008 | 2016 | |||||
|
3 | 0.882 | 0.120 | 10 | 103458488 | frameshift variant | CAGCGGCC/- | delins | 0.100 | 0.933 | 15 | 2008 | 2016 | |||||
|
14 | 0.882 | 0.160 | 19 | 44892009 | intron variant | G/A | snv | 0.69 | 0.810 | 1.000 | 14 | 2009 | 2019 | ||||
|
8 | 0.851 | 0.160 | 2 | 127137039 | downstream gene variant | A/G | snv | 0.35 | 0.900 | 1.000 | 14 | 2011 | 2019 | ||||
|
19 | 0.701 | 0.240 | 1 | 226885603 | missense variant | A/T | snv | 0.100 | 1.000 | 13 | 1997 | 2018 | |||||
|
10 | 0.827 | 0.120 | 19 | 44878777 | 3 prime UTR variant | A/G | snv | 0.58 | 0.800 | 1.000 | 13 | 2008 | 2019 | ||||
|
9 | 0.790 | 0.160 | 21 | 26000095 | missense variant | G/A | snv | 0.100 | 1.000 | 12 | 2003 | 2020 | |||||
|
10 | 0.790 | 0.120 | 5 | 168418786 | intron variant | C/T | snv | 0.43 | 0.100 | 0.917 | 12 | 2009 | 2018 | ||||
|
2 | 0.925 | 0.080 | 11 | 78380104 | intron variant | C/A | snv | 0.24 | 0.900 | 0.750 | 12 | 2007 | 2018 | ||||
|
8 | 0.851 | 0.200 | 19 | 44911194 | non coding transcript exon variant | T/C | snv | 0.68 | 0.810 | 1.000 | 12 | 2009 | 2019 | ||||
|
9 | 0.790 | 0.200 | 19 | 1046521 | intron variant | T/G | snv | 0.14 | 0.900 | 1.000 | 11 | 2011 | 2019 | ||||
|
6 | 0.851 | 0.080 | 1 | 207611623 | intron variant | A/G | snv | 0.74 | 0.880 | 1.000 | 11 | 2009 | 2017 |