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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
42 | 0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 | 0.100 | 1.000 | 11 | 2015 | 2018 | |||
|
52 | 0.689 | 0.480 | 7 | 92501562 | missense variant | C/T | snv | 3.2E-04 | 3.5E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
7 | 0.827 | 0.160 | 19 | 54173307 | upstream gene variant | C/G | snv | 0.61 | 0.020 | 0.500 | 2 | 2017 | 2018 | ||||
|
22 | 0.689 | 0.320 | 19 | 54173068 | missense variant | T/A;C;G | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.100 | 1.000 | 45 | 2009 | 2019 | |||
|
3 | 0.882 | 0.040 | 22 | 50626841 | missense variant | G/A | snv | 4.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.030 | 1.000 | 3 | 2013 | 2017 | ||||
|
6 | 0.827 | 0.200 | 12 | 111783222 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 |