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 | 2 | 8302118 | non coding transcript exon variant | G/A | snv | 0.23 | 0.800 | 1.000 | 3 | 2013 | 2018 | ||||
|
4 | 0.882 | 0.120 | 5 | 111131801 | downstream gene variant | C/T | snv | 0.61 | 0.800 | 1.000 | 3 | 2013 | 2018 | ||||
|
10 | 0.790 | 0.240 | 5 | 111066174 | upstream gene variant | T/C | snv | 0.72 | 0.800 | 1.000 | 3 | 2013 | 2018 | ||||
|
2 | 2 | 198085516 | missense variant | G/A | snv | 0.44 | 0.41 | 0.800 | 1.000 | 2 | 2013 | 2017 | |||||
|
2 | 1.000 | 0.080 | 9 | 6233082 | intron variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2013 | 2018 | |||||
|
4 | 0.882 | 0.120 | 15 | 67175947 | intron variant | A/G | snv | 0.19 | 0.800 | 1.000 | 2 | 2013 | 2016 | ||||
|
1 | 10 | 9010779 | regulatory region variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2013 | 2016 | |||||||
|
2 | 1.000 | 0.040 | 2 | 8309993 | intron variant | A/G | snv | 0.35 | 0.800 | 1.000 | 2 | 2013 | 2016 | ||||
|
3 | 0.925 | 0.080 | 17 | 39910767 | intron variant | C/T | snv | 0.36 | 0.800 | 1.000 | 2 | 2013 | 2016 | ||||
|
4 | 0.882 | 0.120 | 5 | 111134439 | downstream gene variant | C/A | snv | 0.56 | 0.800 | 1.000 | 2 | 2013 | 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 | |||||
|
8 | 0.790 | 0.320 | 4 | 38783103 | upstream gene variant | T/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.120 | 4 | 38764099 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 4 | 38762491 | upstream gene variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 4 | 38783057 | upstream gene variant | C/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 5 | 111107582 | intron variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 0.925 | 0.040 | 5 | 111100751 | intron variant | C/T | snv | 0.53 | 0.54 | 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 | 40530784 | intron variant | C/T | snv | 0.64 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 5 | 111102658 | intron variant | A/G | snv | 0.55 | 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 | 111114886 | intron variant | T/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 5 | 40569851 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 0.925 | 0.080 | 5 | 110854353 | intergenic variant | T/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2013 | 2013 |