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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 1.000 | 91 | 2004 | 2020 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 1.000 | 91 | 2004 | 2020 | |||||
|
31 | 0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv | 0.090 | 1.000 | 9 | 2012 | 2018 | |||||
|
35 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 0.030 | 1.000 | 3 | 2015 | 2016 | |||||
|
31 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 0.030 | 1.000 | 3 | 2015 | 2016 | |||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.030 | 1.000 | 3 | 2015 | 2016 | |||||
|
48 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 0.030 | 1.000 | 3 | 2015 | 2019 | |||||
|
2 | 0.925 | 0.040 | 7 | 140753345 | missense variant | AG/GA | mnv | 0.020 | 1.000 | 2 | 2012 | 2018 | |||||
|
4 | 0.925 | 0.040 | 19 | 7909761 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.827 | 0.120 | 9 | 21971200 | missense variant | C/G;T | snv | 9.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
31 | 0.658 | 0.440 | 1 | 114713909 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
26 | 0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
42 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
34 | 0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
12 | 0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
11 | 0.776 | 0.280 | 7 | 140753337 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 3 | 69965076 | missense variant | C/A;G | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.851 | 0.080 | 4 | 54733173 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 19 | 38595699 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 241143002 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 17 | 8006628 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 178630352 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 20 | 9539512 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 |