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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.020 | 1.000 | 2 | 2015 | 2017 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.020 | 1.000 | 2 | 2015 | 2017 | |||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.020 | 1.000 | 2 | 2015 | 2017 | |||||
|
25 | 0.662 | 0.440 | 16 | 52552429 | non coding transcript exon variant | A/G | snv | 0.63 | 0.020 | 0.500 | 2 | 2007 | 2012 | ||||
|
4 | 0.882 | 0.160 | 13 | 42607866 | 3 prime UTR variant | G/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
35 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
31 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
70 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.732 | 0.280 | 2 | 217041109 | intergenic variant | A/G | snv | 0.44 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
12 | 0.742 | 0.360 | 18 | 62360008 | missense variant | C/T | snv | 0.54 | 0.56 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
22 | 0.695 | 0.320 | 11 | 35154612 | intron variant | T/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 18 | 62369265 | missense variant | C/T | snv | 6.7E-04 | 2.3E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.851 | 0.200 | 18 | 62354528 | missense variant | C/T | snv | 0.12 | 0.12 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 1.000 | 0.120 | 10 | 31520432 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |