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 | 0.100 | 1.000 | 58 | 2005 | 2020 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.100 | 1.000 | 58 | 2005 | 2020 | |||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.100 | 1.000 | 58 | 2005 | 2020 | |||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 1.000 | 13 | 2008 | 2019 | |||||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.880 | 1.000 | 11 | 2009 | 2016 | ||||
|
48 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 0.060 | 1.000 | 6 | 2008 | 2016 | |||||
|
9 | 0.807 | 0.080 | 3 | 189665394 | intron variant | C/T | snv | 0.38 | 0.840 | 1.000 | 5 | 2010 | 2014 | ||||
|
11 | 0.763 | 0.160 | 7 | 55181312 | missense variant | G/T | snv | 0.050 | 1.000 | 5 | 2006 | 2018 | |||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.730 | 1.000 | 5 | 2014 | 2019 | |||||
|
9 | 0.790 | 0.120 | 7 | 55181312 | missense variant | GC/TT | mnv | 0.050 | 1.000 | 5 | 2006 | 2018 | |||||
|
1 | 1.000 | 0.040 | 17 | 67902693 | intron variant | G/A | snv | 0.22 | 0.810 | 1.000 | 4 | 2012 | 2019 | ||||
|
7 | 0.827 | 0.080 | 2 | 29220765 | missense variant | G/T | snv | 0.700 | 1.000 | 3 | 2012 | 2014 | |||||
|
24 | 0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv | 0.720 | 1.000 | 3 | 2016 | 2018 | |||||
|
9 | 0.807 | 0.080 | 19 | 1206957 | missense variant | G/A | snv | 0.030 | 1.000 | 3 | 2015 | 2018 | |||||
|
19 | 0.724 | 0.240 | 5 | 1287079 | 3 prime UTR variant | G/A | snv | 0.63 | 0.810 | 1.000 | 3 | 2012 | 2016 | ||||
|
9 | 0.807 | 0.120 | 7 | 55174014 | missense variant | G/A;C;T | snv | 0.720 | 1.000 | 3 | 2016 | 2018 | |||||
|
8 | 0.776 | 0.360 | 6 | 32400310 | intron variant | T/C | snv | 0.25 | 0.810 | 1.000 | 3 | 2012 | 2017 | ||||
|
42 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 0.810 | 1.000 | 3 | 2009 | 2019 | ||||
|
9 | 0.807 | 0.160 | 2 | 29209816 | missense variant | C/G | snv | 0.700 | 1.000 | 2 | 2012 | 2014 | |||||
|
1 | 1.000 | 0.040 | 2 | 29220734 | missense variant | G/T | snv | 0.700 | 1.000 | 2 | 2012 | 2014 | |||||
|
5 | 0.882 | 0.160 | X | 47566722 | missense variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2014 | 2016 | |||||
|
14 | 0.763 | 0.200 | 17 | 39711955 | missense variant | C/A;T | snv | 0.710 | 1.000 | 2 | 2016 | 2018 | |||||
|
14 | 0.742 | 0.360 | 17 | 7673800 | missense variant | C/A;G | snv | 0.710 | 1.000 | 2 | 2015 | 2016 | |||||
|
23 | 0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2014 | 2016 | |||||
|
18 | 0.724 | 0.160 | 7 | 55191831 | missense variant | T/A;C;G | snv | 0.710 | 1.000 | 2 | 2016 | 2020 |