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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 0.689 | 0.440 | 2 | 31580636 | missense variant | G/A;C;T | snv | 0.66; 4.9E-06 | 0.080 | 0.875 | 8 | 2002 | 2017 | ||||
|
16 | 0.716 | 0.320 | 2 | 31580756 | missense variant | C/T | snv | 1.8E-02 | 2.1E-02 | 0.060 | 0.667 | 6 | 2002 | 2017 | |||
|
4 | 0.882 | 0.080 | 19 | 50856335 | missense variant | G/A | snv | 4.0E-05 | 2.3E-04 | 0.020 | 0.500 | 2 | 2002 | 2005 | |||
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.020 | 1.000 | 2 | 2013 | 2019 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.020 | 1.000 | 2 | 2006 | 2016 | ||||
|
1 | 1.000 | 0.040 | 5 | 147855193 | upstream gene variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | 5 | 111573636 | intron variant | T/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.827 | 0.200 | 19 | 54293995 | downstream gene variant | T/C | snv | 0.82 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.160 | X | 67643401 | missense variant | G/A | snv | 5.7E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.080 | 8 | 142682129 | synonymous variant | C/A | snv | 0.45 | 0.44 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.925 | 0.080 | 17 | 27800492 | 5 prime UTR variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 10 | 121538644 | synonymous variant | T/A;C | snv | 1.2E-05; 0.78 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
11 | 0.776 | 0.200 | X | 71129408 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 10 | 106280012 | intergenic variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.790 | 0.320 | 9 | 117702392 | upstream gene variant | G/A | snv | 3.2E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 19 | 31614073 | regulatory region variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 10 | 121285698 | regulatory region variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.827 | 0.160 | 4 | 73743328 | 3 prime UTR variant | A/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
34 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.040 | 5 | 10454257 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.851 | 0.200 | 17 | 37742390 | intron variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.080 | 2 | 31538488 | intron variant | C/T | snv | 0.42 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.790 | 0.280 | 2 | 172446825 | intron variant | A/G | snv | 4.9E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 |