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 | 4 | 124530209 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 10 | 94309297 | intron variant | T/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 2 | 234557214 | regulatory region variant | A/G | snv | 8.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 17356662 | intron variant | A/G | snv | 0.70 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 2 | 112801337 | intergenic variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 5 | 40726036 | intron variant | C/A;T | snv | 0.24 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 3 | 94389819 | intergenic variant | G/A | snv | 0.89 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 5 | 89607147 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 9 | 133251249 | non coding transcript exon variant | A/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 1 | 155515236 | intron variant | T/C | snv | 2.9E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 17333552 | intron variant | A/G | snv | 0.64 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 21 | 42363329 | missense variant | C/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 12 | 109903156 | missense variant | T/C | snv | 6.5E-04 | 1.7E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 19 | 1223035 | missense variant | C/G;T | snv | 9.2E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 5 | 112839106 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.080 | 1 | 45331530 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2004 | 2015 | |||||
|
2 | 1.000 | 0.080 | 1 | 45331502 | missense variant | T/C | snv | 0.700 | 1.000 | 3 | 2004 | 2015 | |||||
|
2 | 1.000 | 0.080 | 5 | 132489457 | missense variant | T/A | snv | 0.700 | 1.000 | 3 | 1998 | 2014 | |||||
|
2 | 1.000 | 0.080 | 2 | 201187798 | missense variant | T/C | snv | 1.2E-04 | 2.8E-05 | 0.700 | 1.000 | 2 | 2002 | 2014 | |||
|
2 | 0.925 | 0.120 | 5 | 132489448 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 1998 | 1999 | |||||
|
2 | 0.925 | 0.080 | 17 | 8205021 | synonymous variant | G/A | snv | 0.66 | 0.64 | 0.020 | 1.000 | 2 | 2016 | 2019 | |||
|
2 | 0.925 | 0.080 | 17 | 8207446 | intron variant | C/A | snv | 0.54 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
2 | 0.925 | 0.080 | 10 | 29602392 | intron variant | T/C | snv | 0.48 | 0.48 | 0.020 | 1.000 | 2 | 2012 | 2017 | |||
|
2 | 0.925 | 0.080 | 2 | 25345310 | upstream gene variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2012 | 2016 | |||||
|
2 | 0.925 | 0.080 | 5 | 40765760 | intron variant | A/C | snv | 2.7E-03 | 0.020 | 1.000 | 2 | 2014 | 2018 |