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 | 0.800 | 0.983 | 176 | 2004 | 2020 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.800 | 0.983 | 176 | 2004 | 2020 | |||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.800 | 0.983 | 176 | 2004 | 2020 | |||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 1.000 | 29 | 2011 | 2019 | |||||
|
6 | 0.827 | 0.120 | 7 | 55174015 | missense variant | G/A;C | snv | 0.740 | 1.000 | 21 | 1990 | 2019 | |||||
|
9 | 0.807 | 0.120 | 7 | 55174014 | missense variant | G/A;C;T | snv | 0.750 | 1.000 | 21 | 2004 | 2019 | |||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 19 | 2002 | 2019 | |||||
|
15 | 0.776 | 0.080 | 7 | 55181398 | missense variant | T/A | snv | 0.100 | 0.938 | 16 | 2015 | 2020 | |||||
|
48 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 0.100 | 1.000 | 13 | 2011 | 2019 | |||||
|
44 | 0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv | 0.700 | 1.000 | 12 | 2004 | 2014 | |||||
|
18 | 0.724 | 0.160 | 7 | 55191831 | missense variant | T/A;C;G | snv | 0.750 | 1.000 | 11 | 2004 | 2020 | |||||
|
11 | 0.763 | 0.160 | 7 | 55181312 | missense variant | G/T | snv | 0.740 | 1.000 | 11 | 2004 | 2018 | |||||
|
9 | 0.790 | 0.120 | 7 | 55181312 | missense variant | GC/TT | mnv | 0.740 | 1.000 | 10 | 2004 | 2018 | |||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 9 | 1984 | 2014 | |||||
|
2 | 0.925 | 0.160 | 11 | 533881 | missense variant | C/T | snv | 0.700 | 1.000 | 9 | 1982 | 2011 | |||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.070 | 1.000 | 7 | 2006 | 2018 | |||||
|
25 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 1.000 | 7 | 1998 | 2010 | |||||
|
11 | 0.763 | 0.360 | 7 | 140753355 | missense variant | C/G;T | snv | 0.700 | 1.000 | 7 | 2002 | 2010 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.070 | 1.000 | 7 | 2006 | 2018 | |||||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.060 | 1.000 | 6 | 2009 | 2016 | ||||
|
3 | 0.882 | 0.160 | 7 | 55174818 | missense variant | G/A;T | snv | 0.700 | 1.000 | 5 | 2006 | 2014 | |||||
|
1 | 1.000 | 0.080 | 17 | 39724748 | inframe insertion | -/GGGCTCCCC | delins | 0.700 | 1.000 | 5 | 2005 | 2012 | |||||
|
6 | 0.827 | 0.080 | 15 | 66435113 | missense variant | A/C | snv | 0.720 | 1.000 | 4 | 1995 | 2016 | |||||
|
10 | 0.851 | 0.080 | 2 | 29220747 | missense variant | C/T | snv | 0.040 | 1.000 | 4 | 2014 | 2019 | |||||
|
24 | 0.672 | 0.440 | 12 | 25227342 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 4 | 2002 | 2008 |