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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.790 | 0.320 | 11 | 2818521 | intron variant | C/T | snv | 9.2E-02 | 0.900 | 1.000 | 32 | 2008 | 2019 | ||||
|
6 | 0.851 | 0.160 | 10 | 112994329 | intron variant | T/C | snv | 0.34 | 0.900 | 1.000 | 23 | 2006 | 2020 | ||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.900 | 1.000 | 17 | 2007 | 2018 | ||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.100 | 1.000 | 14 | 2009 | 2019 | |||||
|
7 | 0.827 | 0.160 | 6 | 20660803 | intron variant | A/C | snv | 0.40 | 0.900 | 1.000 | 13 | 2007 | 2019 | ||||
|
10 | 0.807 | 0.200 | 11 | 92940662 | downstream gene variant | C/G;T | snv | 0.880 | 1.000 | 12 | 2009 | 2019 | |||||
|
22 | 0.689 | 0.360 | 13 | 109782884 | missense variant | C/G;T | snv | 0.35 | 0.100 | 1.000 | 12 | 2000 | 2017 | ||||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.100 | 1.000 | 12 | 2001 | 2016 | |||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.100 | 1.000 | 12 | 1996 | 2019 | |||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.100 | 1.000 | 11 | 2000 | 2017 | ||||
|
6 | 0.882 | 0.200 | 11 | 2837316 | intron variant | C/T | snv | 8.1E-02 | 0.880 | 1.000 | 11 | 2008 | 2019 | ||||
|
14 | 0.790 | 0.280 | 17 | 37738049 | intron variant | A/G | snv | 0.52 | 0.870 | 1.000 | 11 | 2009 | 2019 | ||||
|
5 | 0.851 | 0.120 | 20 | 44357077 | intron variant | G/A | snv | 0.18 | 0.100 | 1.000 | 10 | 2006 | 2019 | ||||
|
1 | 1.000 | 0.080 | 11 | 2670241 | non coding transcript exon variant | A/G | snv | 0.62 | 0.840 | 1.000 | 10 | 2010 | 2019 | ||||
|
5 | 1.000 | 0.080 | 8 | 117172786 | 3 prime UTR variant | G/A | snv | 0.24 | 0.820 | 1.000 | 10 | 2008 | 2019 | ||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.790 | 1.000 | 10 | 2010 | 2019 | |||
|
21 | 0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 | 0.780 | 1.000 | 9 | 2006 | 2018 | ||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.770 | 1.000 | 9 | 2008 | 2019 | |||
|
19 | 0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 | 0.090 | 1.000 | 9 | 2011 | 2015 | ||||
|
34 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 0.090 | 1.000 | 9 | 2008 | 2017 | ||||
|
4 | 0.882 | 0.120 | 3 | 64726228 | intron variant | C/T | snv | 0.28 | 0.840 | 1.000 | 9 | 2008 | 2019 | ||||
|
7 | 0.807 | 0.240 | 2 | 43505684 | missense variant | T/C | snv | 9.9E-02 | 0.14 | 0.840 | 1.000 | 9 | 2008 | 2017 | |||
|
18 | 0.732 | 0.320 | 12 | 121915884 | frameshift variant | G/-;GG | delins | 0.090 | 1.000 | 9 | 2011 | 2015 | |||||
|
5 | 0.882 | 0.120 | 10 | 12286011 | intergenic variant | A/G | snv | 0.17 | 0.850 | 1.000 | 8 | 2008 | 2015 | ||||
|
13 | 0.790 | 0.280 | 18 | 60217517 | intergenic variant | G/A | snv | 0.21 | 0.840 | 1.000 | 8 | 2009 | 2018 |