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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.925 | 0.080 | 11 | 27706992 | intron variant | A/C | snv | 0.83 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 6 | 110873500 | upstream gene variant | C/A;G | snv | 0.80 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 7 | 95319437 | intron variant | A/G | snv | 0.78 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.120 | 7 | 106285307 | intron variant | C/A;T | snv | 0.76 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 1 | 74504631 | intron variant | A/G | snv | 0.67 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.790 | 0.440 | 10 | 67903362 | intron variant | C/G | snv | 0.64 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 3 | 52506757 | synonymous variant | T/C | snv | 0.53 | 0.59 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.827 | 0.120 | 2 | 226241205 | intergenic variant | C/T | snv | 0.58 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.080 | 16 | 53778702 | intron variant | G/A | snv | 0.54 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.807 | 0.200 | 5 | 77222617 | intron variant | G/A | snv | 0.54 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 19 | 1101993 | upstream gene variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 4 | 55632082 | intron variant | C/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.020 | 1.000 | 2 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 19 | 1103466 | upstream gene variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 4 | 55627773 | intron variant | T/C | snv | 0.49 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 1.000 | 0.080 | 3 | 52825614 | intron variant | C/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.160 | 6 | 28515705 | missense variant | A/C | snv | 0.38 | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.060 | 0.833 | 6 | 2012 | 2019 | ||||
|
17 | 0.724 | 0.520 | 11 | 73983709 | non coding transcript exon variant | C/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 6 | 28526550 | intron variant | A/G | snv | 0.39 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
11 | 0.763 | 0.320 | 7 | 151012483 | 3 prime UTR variant | G/T | snv | 0.38 | 0.32 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
21 | 0.827 | 0.120 | 16 | 53769662 | intron variant | T/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
28 | 0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
7 | 0.882 | 0.120 | 15 | 67794500 | intron variant | G/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.080 | 7 | 106283804 | intron variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 |