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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.200 | 6 | 33195861 | non coding transcript exon variant | AG/- | delins | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.200 | 4 | 84604268 | missense variant | G/C | snv | 1.2E-03 | 9.1E-04 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
2 | 0.925 | 0.200 | 22 | 50738307 | synonymous variant | G/A;C | snv | 1.6E-05; 6.0E-05 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.200 | 7 | 51470190 | upstream gene variant | C/T | snv | 0.12 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.200 | 5 | 116423793 | intergenic variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.200 | 6 | 33102116 | upstream gene variant | A/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.200 | 11 | 60824803 | upstream gene variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.200 | 6 | 33195674 | synonymous variant | G/A | snv | 0.77 | 0.77 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
4 | 0.925 | 0.200 | 17 | 7675999 | missense variant | A/C;T | snv | 8.0E-06 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.280 | 7 | 92617430 | intron variant | C/G | snv | 0.21 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.240 | 6 | 138123793 | regulatory region variant | A/G | snv | 0.21 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.320 | 17 | 6238357 | intergenic variant | A/C | snv | 0.81 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.280 | 6 | 33071848 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.790 | 0.520 | 6 | 33087761 | 3 prime UTR variant | C/T | snv | 0.38 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
11 | 0.752 | 0.360 | 22 | 23893562 | intron variant | -/ATTC | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
17 | 0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
21 | 0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.030 | 0.667 | 3 | 2011 | 2012 |