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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.120 | 10 | 43114492 | missense variant | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.080 | 8 | 132869781 | missense variant | G/A | snv | 7.6E-04 | 7.0E-04 | 0.700 | 0 | ||||||
|
6 | 0.827 | 0.120 | 16 | 68822063 | missense variant | G/A;T | snv | 3.3E-03; 2.4E-05 | 0.700 | 0 | |||||||
|
33 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.360 | 11 | 108267344 | splice donor variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
24 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.710 | 1.000 | 4 | 2001 | 2018 | ||||
|
33 | 0.662 | 0.280 | 10 | 43121968 | missense variant | T/C | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2001 | 2018 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 0.980 | 98 | 2004 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 0.979 | 96 | 2004 | 2019 | |||||
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.020 | 1.000 | 2 | 2004 | 2015 | ||||
|
8 | 0.807 | 0.120 | 11 | 48125070 | missense variant | G/A | snv | 0.18 | 0.19 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
10 | 0.807 | 0.120 | 11 | 48123823 | missense variant | A/C | snv | 0.17 | 0.15 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.020 | 1.000 | 2 | 2005 | 2018 | |||
|
16 | 0.752 | 0.200 | 7 | 116771936 | missense variant | C/T | snv | 7.9E-03 | 9.0E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
29 | 0.662 | 0.360 | 10 | 43119548 | missense variant | G/A;C;T | snv | 1.2E-04; 4.3E-06 | 0.020 | 1.000 | 2 | 2006 | 2016 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
23 | 0.672 | 0.280 | 10 | 43118460 | missense variant | A/G;T | snv | 4.0E-06; 2.1E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.080 | 1 | 118422631 | intergenic variant | C/A | snv | 0.78 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.080 | 1 | 117956431 | intron variant | T/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.851 | 0.080 | 12 | 916703 | missense variant | G/C | snv | 2.4E-03 | 9.6E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.851 | 0.080 | 14 | 103699474 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
15 | 0.742 | 0.200 | 9 | 97793827 | intron variant | A/G;T | snv | 0.860 | 1.000 | 10 | 2009 | 2016 | |||||
|
10 | 0.776 | 0.160 | 9 | 97853632 | 5 prime UTR variant | A/G | snv | 0.63 | 0.750 | 1.000 | 6 | 2009 | 2015 | ||||
|
16 | 0.742 | 0.200 | 14 | 36180040 | upstream gene variant | C/T | snv | 0.45 | 0.850 | 1.000 | 6 | 2009 | 2015 | ||||
|
4 | 0.925 | 0.080 | 9 | 97794690 | intron variant | A/G | snv | 0.72 | 0.700 | 1.000 | 3 | 2009 | 2013 |