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 | 0.882 | 0.080 | 11 | 105762027 | intron variant | TT/-;T;TTT;TTTT;TTTTT;TTTTTTTTTTTT | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
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 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.050 | 1.000 | 5 | 2012 | 2017 | |||||
|
8 | 0.851 | 0.080 | 9 | 34637693 | missense variant | T/G | snv | 0.20 | 0.18 | 0.020 | 1.000 | 2 | 2010 | 2017 | |||
|
1 | 1.000 | 0.040 | 5 | 165057942 | non coding transcript exon variant | T/G | snv | 0.57 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||
|
1 | 1.000 | 0.040 | 14 | 74663532 | 3 prime UTR variant | T/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 16 | 52266343 | intron variant | T/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 2 | 15258840 | intron variant | T/G | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 9 | 11544964 | intergenic variant | T/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 11 | 113441417 | intron variant | T/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 19 | 14765351 | missense variant | T/G | snv | 9.5E-04 | 2.6E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 1.000 | 0.040 | 18 | 49694188 | intergenic variant | T/G | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.080 | 2 | 207562074 | intron variant | T/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.040 | 16 | 9581389 | intron variant | T/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 18 | 9088652 | intergenic variant | T/G | snv | 7.0E-02 | 0.010 | 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 | 0.925 | 0.040 | 5 | 63955024 | downstream gene variant | T/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.120 | 17 | 45486856 | intron variant | T/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.080 | 11 | 6321099 | intron variant | T/G | snv | 0.80 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 6 | 29257248 | intron variant | T/G | snv | 3.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 6 | 28728995 | upstream gene variant | T/G | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 12 | 70704388 | intron variant | T/G | snv | 0.47 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.807 | 0.120 | 6 | 88151489 | intron variant | T/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 3 | 35642443 | intron variant | T/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 |