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 | 0.790 | 0.160 | 22 | 37137994 | intron variant | G/A | snv | 0.43 | 0.810 | 1.000 | 3 | 2010 | 2012 | ||||
|
7 | 0.752 | 0.360 | 17 | 39884510 | intergenic variant | G/A;T | snv | 0.720 | 1.000 | 3 | 2010 | 2012 | |||||
|
2 | 1.000 | 0.080 | 2 | 102369762 | intron variant | G/A;T | snv | 0.810 | 1.000 | 3 | 2010 | 2012 | |||||
|
2 | 0.827 | 0.160 | 5 | 132634182 | intron variant | T/C | snv | 0.24 | 0.710 | 1.000 | 3 | 2010 | 2016 | ||||
|
1 | 1.000 | 0.080 | 15 | 67154447 | intron variant | G/A;T | snv | 0.810 | 1.000 | 3 | 2010 | 2012 | |||||
|
2 | 0.925 | 0.080 | 17 | 39936460 | intron variant | T/C | snv | 0.45 | 0.710 | 1.000 | 3 | 2010 | 2012 | ||||
|
3 | 0.925 | 0.080 | 17 | 39766006 | synonymous variant | G/A | snv | 0.41 | 0.36 | 0.810 | 1.000 | 3 | 2010 | 2019 | |||
|
1 | 0.827 | 0.200 | 6 | 32658092 | upstream gene variant | T/C;G | snv | 0.810 | 1.000 | 3 | 2010 | 2012 | |||||
|
1 | 0.807 | 0.280 | 17 | 39869164 | intron variant | G/A | snv | 0.24 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
2 | 0.925 | 0.160 | 2 | 102338193 | 5 prime UTR variant | C/T | snv | 0.18 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
1 | 1.000 | 0.080 | 17 | 39709752 | intron variant | C/T | snv | 0.64 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
1 | 1.000 | 0.080 | 17 | 39661229 | non coding transcript exon variant | T/C | snv | 0.61 | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||
|
6 | 0.790 | 0.360 | 17 | 39909987 | intron variant | T/C | snv | 0.48 | 0.820 | 1.000 | 2 | 2010 | 2016 | ||||
|
3 | 0.851 | 0.160 | 17 | 39932164 | intron variant | T/A;C | snv | 0.720 | 1.000 | 2 | 2010 | 2013 | |||||
|
6 | 0.752 | 0.240 | 17 | 39895095 | regulatory region variant | A/G | snv | 0.50 | 0.720 | 1.000 | 2 | 2010 | 2015 | ||||
|
4 | 0.790 | 0.240 | 17 | 39820216 | intron variant | C/T | snv | 0.52 | 0.720 | 1.000 | 2 | 2010 | 2017 | ||||
|
1 | 1.000 | 0.080 | 17 | 39955101 | intron variant | A/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 2 | 102351896 | missense variant | C/T | snv | 0.34 | 0.46 | 0.710 | 1.000 | 1 | 2010 | 2020 | |||
|
1 | 0.925 | 0.160 | 2 | 102351752 | missense variant | A/G;T | snv | 0.34 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 2 | 102351902 | missense variant | T/C;G | snv | 0.34; 4.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 17 | 40041661 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 17 | 39665182 | upstream gene variant | -/T | ins | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.851 | 0.200 | 17 | 39872381 | missense variant | G/T | snv | 0.45 | 0.45 | 0.710 | 1.000 | 1 | 2010 | 2011 | |||
|
1 | 1.000 | 0.080 | 2 | 177741042 | intron variant | C/A | snv | 0.71 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 17 | 39678288 | intron variant | T/C | snv | 0.58 | 0.700 | 1.000 | 1 | 2010 | 2010 |