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 | |||||
|
2 | 1.000 | 0.080 | 2 | 102263004 | regulatory region variant | C/A | snv | 0.15 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 2 | 198049348 | intron variant | G/T | snv | 0.43 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 11 | 128316987 | regulatory region variant | T/G | snv | 0.36 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.040 | 15 | 67157967 | intron variant | A/G | snv | 0.17 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.827 | 0.280 | 4 | 122408207 | intron variant | G/A | snv | 0.20 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 14 | 37607943 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
52 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 0.800 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1 | 10521601 | intron variant | G/A | snv | 0.25 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 0.925 | 0.080 | 4 | 38809930 | intron variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 16 | 27399508 | upstream gene variant | A/G | snv | 0.85 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
14 | 0.732 | 0.280 | 11 | 76588150 | upstream gene variant | G/T | snv | 0.52 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 20 | 51524725 | intron variant | T/C | snv | 5.7E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 6 | 33518955 | intergenic variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 |