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 | 1.000 | 0.080 | 9 | 6233082 | intron variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2013 | 2018 | |||||
|
4 | 0.882 | 0.160 | 10 | 9007290 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2017 | 2018 | |||||
|
1 | 10 | 9010779 | regulatory region variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2013 | 2016 | |||||||
|
3 | 0.925 | 0.080 | 7 | 20521373 | intergenic variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2017 | 2018 | |||||
|
1 | 8 | 80380364 | intron variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
3 | 0.925 | 0.160 | 17 | 39911790 | intron variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2013 | 2018 | |||||
|
2 | 1.000 | 0.120 | 2 | 102316052 | intron variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2013 | 2016 | |||||
|
2 | 1.000 | 0.120 | 4 | 38764099 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 5 | 40493132 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 5 | 111117147 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 5 | 40569851 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 5 | 40575737 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 0.925 | 0.160 | 17 | 39910014 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 2 | 102471113 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 1.000 | 0.080 | 2 | 234770601 | regulatory region variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 2 | 102359712 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 2 | 197948686 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 2 | 197873295 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 2 | 197905015 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 2 | 198041757 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 1.000 | 0.080 | 2 | 102351902 | missense variant | T/C;G | snv | 0.34; 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 5 | 111128310 | 3 prime UTR variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 5 | 110845538 | intergenic variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
8 | 0.790 | 0.280 | 14 | 35292469 | 5 prime UTR variant | C/G;T | snv | 0.19; 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 5 | 111118108 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 |