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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.900 | 0.975 | 160 | 2004 | 2020 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.829 | 70 | 1999 | 2018 | |||
|
62 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 0.900 | 0.945 | 55 | 2007 | 2019 | ||||
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.800 | 0.861 | 36 | 1997 | 2017 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.806 | 31 | 2002 | 2019 | |||||
|
25 | 0.708 | 0.160 | 18 | 48927093 | intron variant | T/A;C | snv | 0.900 | 0.964 | 28 | 2007 | 2019 | |||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.100 | 0.833 | 24 | 2004 | 2016 | |||
|
25 | 0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 | 0.900 | 1.000 | 24 | 2008 | 2019 | ||||
|
48 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 0.100 | 0.913 | 23 | 2008 | 2019 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.100 | 0.727 | 22 | 2006 | 2019 | ||||
|
18 | 0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 | 0.900 | 1.000 | 19 | 2008 | 2019 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.100 | 0.500 | 18 | 2005 | 2019 | |||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.100 | 0.882 | 17 | 2011 | 2018 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.100 | 0.882 | 17 | 2002 | 2019 | |||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.100 | 0.824 | 17 | 2012 | 2018 | |||
|
32 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 0.800 | 1.000 | 17 | 2002 | 2019 | |||
|
31 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.800 | 0.941 | 17 | 2002 | 2019 | |||
|
31 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 0.890 | 0.938 | 16 | 2007 | 2019 | ||||
|
17 | 0.724 | 0.160 | 10 | 8659256 | upstream gene variant | G/A | snv | 0.24 | 0.900 | 1.000 | 15 | 2008 | 2019 | ||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.100 | 0.800 | 15 | 2005 | 2019 | ||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.100 | 0.933 | 15 | 2004 | 2018 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.100 | 0.929 | 14 | 2003 | 2019 | ||||
|
34 | 0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 | 0.800 | 1.000 | 14 | 2002 | 2015 | ||||
|
18 | 0.724 | 0.240 | 18 | 48927559 | intron variant | C/T | snv | 0.36 | 0.900 | 1.000 | 14 | 2007 | 2018 | ||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.100 | 0.857 | 14 | 2009 | 2016 |