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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 22 | 31104550 | 3 prime UTR variant | G/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
16 | 0.732 | 0.240 | 20 | 23048087 | missense variant | G/A;T | snv | 0.19 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.120 | 19 | 15174241 | synonymous variant | T/A;C | snv | 0.86 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 19 | 15160960 | missense variant | G/A | snv | 0.71 | 0.69 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.882 | 0.160 | 12 | 10159690 | 3 prime UTR variant | G/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.776 | 0.320 | 13 | 30737959 | intron variant | A/T | snv | 0.52 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.120 | 17 | 1754359 | missense variant | G/A | snv | 0.22 | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.851 | 0.280 | X | 154013378 | missense variant | G/A | snv | 0.67 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.120 | 9 | 138058845 | intron variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.763 | 0.160 | 12 | 124827879 | intron variant | G/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 11 | 73241451 | non coding transcript exon variant | G/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
18 | 0.724 | 0.280 | 12 | 10160849 | missense variant | C/G | snv | 0.11 | 0.13 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.120 | 9 | 138045676 | intron variant | C/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
24 | 0.683 | 0.320 | 17 | 80385145 | missense variant | G/A;C | snv | 2.6E-04; 8.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.882 | 0.200 | 19 | 3595925 | missense variant | G/A | snv | 0.22 | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
6 | 0.827 | 0.200 | 12 | 666033 | upstream gene variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 2 | 182757711 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
11 | 0.763 | 0.320 | 3 | 93905799 | missense variant | T/C | snv | 2.8E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
11 | 0.763 | 0.280 | 11 | 18269774 | synonymous variant | T/C | snv | 0.42 | 0.36 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
40 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.240 | 12 | 1787714 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 |