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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.100 | 0.833 | 12 | 2009 | 2020 | |||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.100 | 0.917 | 12 | 2003 | 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 | ||||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.820 | 1.000 | 11 | 2007 | 2019 | ||||
|
8 | 0.790 | 0.120 | 21 | 25897620 | missense variant | C/T | snv | 4.5E-04 | 3.0E-04 | 0.100 | 0.818 | 11 | 2012 | 2018 | |||
|
3 | 0.882 | 0.120 | 19 | 1063444 | intron variant | A/C;G | snv | 0.860 | 1.000 | 10 | 2013 | 2019 | |||||
|
11 | 0.763 | 0.160 | 21 | 25897626 | missense variant | T/A;G | snv | 0.100 | 1.000 | 10 | 1998 | 2018 | |||||
|
3 | 0.882 | 0.200 | 21 | 25891853 | missense variant | C/T | snv | 0.720 | 1.000 | 10 | 2001 | 2019 | |||||
|
17 | 0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv | 0.100 | 1.000 | 10 | 2001 | 2017 | |||||
|
5 | 1.000 | 0.080 | 19 | 44898409 | intron variant | A/G | snv | 0.36 | 0.800 | 1.000 | 10 | 2009 | 2019 | ||||
|
7 | 1.000 | 0.080 | 19 | 44825957 | downstream gene variant | T/G | snv | 0.28 | 0.800 | 1.000 | 9 | 2009 | 2019 | ||||
|
14 | 0.763 | 0.120 | 14 | 73206470 | missense variant | A/G | snv | 1.5E-02 | 1.5E-02 | 0.090 | 1.000 | 9 | 1998 | 2019 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.090 | 0.778 | 9 | 2004 | 2014 | |||
|
24 | 0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 | 0.090 | 0.889 | 9 | 2006 | 2018 | |||
|
8 | 0.776 | 0.200 | 21 | 25891855 | missense variant | T/C | snv | 0.790 | 1.000 | 9 | 2001 | 2019 | |||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.090 | 0.667 | 9 | 2003 | 2014 | |||
|
16 | 0.790 | 0.240 | 19 | 44888997 | 3 prime UTR variant | C/T | snv | 0.13 | 0.810 | 1.000 | 9 | 2009 | 2017 | ||||
|
5 | 0.827 | 0.200 | 8 | 27611345 | 5 prime UTR variant | C/G | snv | 0.35 | 0.28 | 0.880 | 1.000 | 9 | 2009 | 2019 | |||
|
2 | 0.925 | 0.080 | 11 | 121564878 | intron variant | T/A;C | snv | 0.830 | 1.000 | 8 | 2013 | 2019 |