| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.200 | 1 | 100731231 | missense variant | G/A;C | snv | 4.0E-06; 9.9E-03 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 8 | 102649991 | 3 prime UTR variant | G/A | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 8 | 102653285 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 2 | 105998818 | intergenic variant | T/C | snv | 7.1E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.080 | 9 | 107487224 | non coding transcript exon variant | C/T | snv | 0.18 | 0.15 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 9 | 109419337 | intron variant | T/C | snv | 3.9E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 1 | 109686818 | intron variant | GT/- | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.280 | 1 | 11273836 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.280 | 1 | 11285644 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 13 | 113159911 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 13 | 113164394 | intron variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 13 | 113165199 | intron variant | G/A | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 5 | 113387870 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 11 | 113553836 | regulatory region variant | G/T | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 1.000 | 12 | 1998 | 2019 | |||||||
|
1.000 | 0.080 | 4 | 122088578 | upstream gene variant | T/C | snv | 9.9E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 6 | 12292355 | missense variant | G/A | snv | 8.0E-06 | 3.5E-05 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 9 | 130483269 | intron variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 9 | 130502523 | downstream gene variant | C/T | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 16 | 134391 | intron variant | T/G | snv | 2.0E-02 |
|
0.710 | 1.000 | 1 | 2013 | 2013 |