Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 20 | 35186731 | intron variant | A/- | delins | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 6 | 160731092 | missense variant | A/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | X | 139550700 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.952 | 21 | 1997 | 2019 | |||||||
|
0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv |
|
0.020 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.020 | 0.500 | 2 | 2008 | 2018 | |||||||
|
1.000 | 0.040 | 3 | 93882955 | intron variant | A/G | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.120 | 20 | 23048144 | missense variant | A/G | snv | 1.0E-04 | 2.8E-04 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.807 | 0.440 | 13 | 46055809 | missense variant | A/G | snv | 0.74 | 0.77 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.827 | 0.200 | 6 | 151944488 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 1 | 169550655 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
1.000 | 0.040 | X | 139551121 | missense variant | A/G | snv | 0.22 | 0.23 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 127418464 | 5 prime UTR variant | A/T | snv | 0.38 | 0.44 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.120 | 4 | 154623920 | upstream gene variant | A/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 4 | 186199057 | missense variant | C/A | snv | 0.57 | 0.61 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.790 | 0.200 | 19 | 10632450 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.763 | 0.200 | 17 | 64356203 | missense variant | C/A;T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.763 | 0.200 | 18 | 49567494 | missense variant | C/A;T | snv | 4.0E-06; 0.27; 4.0E-06 | 0.23 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.080 | 17 | 28370430 | intron variant | C/A;T | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.120 | 4 | 186292729 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.724 | 0.280 | 6 | 6318562 | missense variant | C/A;T | snv | 0.20; 2.4E-05 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.040 | 20 | 23048100 | missense variant | C/A;T | snv | 4.1E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.040 | 3 | 93956895 | intron variant | C/G | snv | 0.97 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |