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 | 0.040 | 1 | 164244449 | intergenic variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 200366947 | non coding transcript exon variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.040 | 1 | 219586340 | regulatory region variant | C/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 60875960 | intron variant | T/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 90939337 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.925 | 0.080 | 1 | 151430715 | frameshift variant | -/GATTGGCA | delins | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.240 | 1 | 102912180 | inframe deletion | CCTCACCAGATGGGCCAG/- | delins | 0.700 | 0 | ||||||||
|
67 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
43 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.807 | 0.200 | 1 | 216073096 | splice donor variant | C/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
17 | 0.790 | 0.440 | 2 | 72498492 | stop gained | A/C | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
4 | 0.882 | 0.040 | 2 | 144466053 | intron variant | C/T | snv | 0.21 | 0.020 | 0.500 | 2 | 2017 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 232520686 | missense variant | G/A | snv | 0.72 | 0.64 | 0.710 | 1.000 | 2 | 2016 | 2016 | |||
|
2 | 1.000 | 0.040 | 2 | 177701185 | missense variant | T/C | snv | 3.2E-02 | 2.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 2 | 171987022 | intron variant | C/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 2 | 44925609 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 2 | 156502238 | intron variant | T/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 2 | 146131140 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 1.000 | 0.040 | 2 | 227010441 | missense variant | C/T | snv | 7.2E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
33 | 0.742 | 0.320 | 2 | 178589003 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.040 | 2 | 227059468 | missense variant | C/G | snv | 7.2E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
33 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 3 | 167439281 | downstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.040 | 3 | 99730008 | intron variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 3 | 24227186 | intron variant | C/T | snv | 0.70 | 0.700 | 1.000 | 1 | 2016 | 2016 |