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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.040 | 1.000 | 4 | 2011 | 2015 | ||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.030 | 1.000 | 3 | 2004 | 2012 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2010 | 2012 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2010 | 2012 | |||||
|
55 | 0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 | 0.020 | 1.000 | 2 | 2004 | 2012 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 1.000 | 2 | 2010 | 2012 | |||||
|
4 | 0.925 | 0.040 | 19 | 7909761 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
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 | |||||
|
21 | 0.701 | 0.440 | 17 | 7674917 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 17 | 7676271 | frameshift variant | -/A | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 8 | 47960120 | missense variant | C/T | snv | 9.7E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
16 | 0.716 | 0.480 | X | 49259429 | intron variant | T/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.763 | 0.240 | 2 | 29220831 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 16 | 2040233 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
24 | 0.683 | 0.400 | 21 | 43104346 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
30 | 0.672 | 0.480 | 19 | 41006936 | missense variant | G/A;T | snv | 4.0E-06; 0.27 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
23 | 0.701 | 0.280 | 8 | 89978293 | missense variant | T/C;G | snv | 1.2E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 3 | 14147981 | frameshift variant | GACGATGTATCCA/- | delins | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
1 | 3 | 14170483 | missense variant | T/G | snv | 5.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 19 | 45368650 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |