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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
38 | 0.627 | 0.480 | 3 | 9756778 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
5 | 0.827 | 0.160 | 3 | 14158639 | missense variant | C/T | snv | 1.6E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
5 | 0.851 | 0.200 | 17 | 43057090 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.807 | 0.120 | 17 | 43045257 | 3 prime UTR variant | C/A | snv | 0.34 | 0.29 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
57 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
11 | 0.790 | 0.200 | 2 | 47416318 | missense variant | G/A;T | snv | 1.3E-02; 2.0E-05 | 0.020 | 1.000 | 2 | 2015 | 2020 | ||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.020 | 1.000 | 2 | 2015 | 2016 | |||
|
2 | 0.925 | 0.080 | 7 | 148855364 | intron variant | C/T | snv | 0.76 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
17 | 0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
14 | 0.742 | 0.240 | 19 | 10180505 | missense variant | T/C | snv | 2.4E-02 | 9.6E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
10 | 0.790 | 0.240 | 2 | 47410107 | missense variant | A/C;G;T | snv | 5.8E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.080 | 1 | 226408338 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.882 | 0.120 | 19 | 10146569 | intron variant | G/A | snv | 0.36 | 0.35 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
78 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
37 | 0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.807 | 0.160 | 16 | 52565276 | intron variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 7 | 152638744 | intergenic variant | A/G | snv | 0.94 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 226408378 | upstream gene variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.240 | 8 | 81478525 | 3 prime UTR variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 19 | 17267350 | intron variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.851 | 0.200 | 2 | 214745842 | stop gained | G/A | snv | 2.4E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 |