| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 6 | 131570680 | intron variant | A/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 1 | 116927159 | intron variant | C/G | snv | 0.17 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
20 | 0.695 | 0.520 | 7 | 45921476 | intron variant | G/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.851 | 0.280 | 16 | 85942053 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.200 | 16 | 85910833 | intron variant | A/G;T | snv | 0.35 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.827 | 0.160 | 12 | 117439680 | intron variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 6 | 100181202 | downstream gene variant | T/C | snv | 0.23 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.120 | X | 65147139 | intergenic variant | G/A | snv | 0.25 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.280 | 15 | 69726651 | intron variant | A/G | snv | 0.67 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.776 | 0.280 | 11 | 123490689 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 4 | 119565333 | synonymous variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.160 | 9 | 22200957 | downstream gene variant | G/A | snv | 7.4E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.742 | 0.360 | 6 | 411064 | 3 prime UTR variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.851 | 0.280 | 6 | 417727 | intergenic variant | A/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.200 | 3 | 105292046 | intergenic variant | A/G | snv | 0.25 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 3 | 80816613 | intergenic variant | G/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 |