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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.040 | 1 | 99463578 | upstream gene variant | T/C | snv | 2.3E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 1 | 67909145 | intron variant | C/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 1 | 75464629 | intron variant | G/A | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 1 | 106683737 | intergenic variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 1 | 14959860 | intron variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 1 | 7730488 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 1 | 72254674 | intron variant | C/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 1.000 | 0.040 | 1 | 201918593 | intron variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
17 | 0.708 | 0.200 | 1 | 19666020 | synonymous variant | C/T | snv | 0.15; 8.0E-06 | 0.16 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
9 | 0.807 | 0.080 | 1 | 31626924 | missense variant | A/G | snv | 0.56 | 0.50 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1 | 7796286 | intron variant | T/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 2036515 | intergenic variant | C/T | snv | 0.71 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 1 | 2024923 | non coding transcript exon variant | G/A | snv | 0.80 | 0.81 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 1 | 7830057 | missense variant | T/C | snv | 0.14 | 0.23 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1 | 206117948 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.040 | 1 | 8371547 | intron variant | C/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1 | 65942328 | intron variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 0.925 | 0.040 | 1 | 110479338 | intron variant | C/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1 | 66081201 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
7 | 0.827 | 0.080 | 1 | 231818355 | missense variant | C/T | snv | 0.11 | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.040 | 1 | 229213737 | intergenic variant | A/G | snv | 8.0E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 1 | 174452856 | intron variant | C/T | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 1 | 174805993 | intron variant | A/G | snv | 0.60 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2011 | 2017 |