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 | 0.941 | 34 | 2005 | 2020 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.100 | 0.941 | 34 | 2005 | 2020 | |||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.100 | 0.941 | 34 | 2005 | 2020 | |||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 1.000 | 20 | 2006 | 2019 | |||||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.080 | 1.000 | 8 | 2009 | 2016 | ||||
|
48 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 0.050 | 1.000 | 5 | 2006 | 2019 | |||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.040 | 1.000 | 4 | 2016 | 2018 | |||||
|
42 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 0.040 | 1.000 | 4 | 2013 | 2016 | ||||
|
13 | 0.763 | 0.400 | 7 | 5978664 | missense variant | T/A;G | snv | 0.030 | 1.000 | 3 | 2011 | 2019 | |||||
|
32 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2016 | 2016 | |||||
|
21 | 0.716 | 0.120 | 17 | 7675097 | missense variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||
|
6 | 0.851 | 0.200 | 7 | 87601024 | 5 prime UTR variant | A/G | snv | 0.020 | 0.500 | 2 | 2006 | 2008 | |||||
|
18 | 0.724 | 0.160 | 7 | 55191831 | missense variant | T/A;C;G | snv | 0.020 | 1.000 | 2 | 2013 | 2014 | |||||
|
36 | 0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2007 | 2016 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 0.500 | 2 | 2014 | 2018 | |||||
|
12 | 0.763 | 0.320 | 5 | 1315545 | downstream gene variant | G/A | snv | 0.51 | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||
|
2 | 1.000 | 0.080 | 8 | 9552985 | upstream gene variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
31 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 1.000 | 0.040 | 2 | 29214054 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
23 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
14 | 0.763 | 0.200 | 17 | 39711955 | missense variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
9 | 0.807 | 0.080 | 3 | 189665394 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
24 | 0.677 | 0.400 | 5 | 168768351 | intron variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.080 | 5 | 1285917 | intron variant | G/A | snv | 7.8E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 19 | 41337556 | intron variant | T/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2008 | 2008 |