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 | 5 | 39203496 | intron variant | TT/-;T;TTT | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.040 | 16 | 62031776 | intron variant | TA/- | del | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.040 | 11 | 113441417 | intron variant | T/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 18 | 49694188 | intergenic variant | T/G | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 2 | 143479467 | intron variant | T/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 3 | 35642443 | intron variant | T/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 6 | 29595290 | intron variant | T/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 21 | 38360474 | intergenic variant | T/G | snv | 4.8E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 9 | 117739366 | intron variant | T/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 11 | 113515625 | intergenic variant | T/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 11 | 113559764 | intergenic variant | T/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 3 | 136765048 | intergenic variant | T/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 2 | 24165740 | intron variant | T/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 18 | 55455800 | intron variant | T/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 10 | 104694914 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
14 | 0.732 | 0.120 | 3 | 52550771 | synonymous variant | T/C;G | snv | 0.39; 4.0E-06 | 0.34 | 0.810 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 1.000 | 0.040 | 3 | 49806290 | non coding transcript exon variant | T/C;G | snv | 0.38; 7.9E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 2 | 99406310 | non coding transcript exon variant | T/C;G | snv | 0.44; 8.2E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.776 | 0.120 | 3 | 7442784 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.925 | 0.080 | 17 | 46006582 | intron variant | T/C;G | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.925 | 0.120 | 17 | 45727828 | intron variant | T/C;G | snv | 0.60 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.030 | 1.000 | 3 | 2014 | 2015 | |||
|
8 | 0.807 | 0.120 | 10 | 81889983 | intron variant | T/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 7 | 12223920 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 1 | 99463578 | upstream gene variant | T/C | snv | 2.3E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 |