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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.320 | 1 | 241513659 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.320 | 1 | 241513661 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 6 | 151880688 | missense variant | A/G | snv | 8.0E-06 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||||
|
17 | 0.724 | 0.480 | 22 | 19963746 | missense variant | G/C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
22 | 0.683 | 0.280 | 12 | 53967210 | intron variant | C/A | snv | 0.28 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
60 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
31 | 0.649 | 0.440 | 12 | 53968051 | non coding transcript exon variant | G/A | snv | 0.93 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.050 | 0.800 | 5 | 2007 | 2017 | |||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.040 | 1.000 | 4 | 2008 | 2016 | |||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.040 | 1.000 | 4 | 2011 | 2017 | ||||
|
3 | 0.925 | 0.080 | 11 | 203788 | 3 prime UTR variant | C/T | snv | 4.7E-02 | 0.830 | 1.000 | 4 | 2011 | 2018 | ||||
|
2 | 1.000 | 22 | 40256869 | intron variant | A/G | snv | 0.19 | 0.820 | 1.000 | 3 | 2011 | 2018 | |||||
|
2 | 1.000 | 6 | 152241136 | intron variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
37 | 0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
3 | 0.925 | 0.040 | 1 | 22096228 | 3 prime UTR variant | G/A | snv | 0.14 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
2 | 1.000 | 13 | 40149807 | intron variant | G/A | snv | 1.3E-02 | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
2 | 1.000 | 11 | 108444879 | intron variant | C/T | snv | 1.6E-02 | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
6 | 0.925 | 0.080 | 20 | 5967581 | missense variant | G/A | snv | 4.5E-02 | 4.2E-02 | 0.700 | 1.000 | 2 | 2018 | 2019 | |||
|
1 | 17 | 82209113 | intron variant | G/T | snv | 0.46 | 0.710 | 1.000 | 2 | 2012 | 2016 | ||||||
|
15 | 0.763 | 0.160 | 17 | 42554888 | missense variant | G/A;C;T | snv | 0.56; 9.0E-05; 1.4E-05 | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||
|
8 | 0.790 | 0.120 | 10 | 103920874 | upstream gene variant | T/G | snv | 0.26 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
2 | 1.000 | 10 | 103954641 | intergenic variant | C/T | snv | 7.0E-02 | 0.810 | 1.000 | 2 | 2011 | 2017 | |||||
|
4 | 0.882 | 0.120 | 13 | 40605661 | intron variant | A/G | snv | 0.38 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2019 | 2019 |