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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | Y | 57184462 | intron variant | T/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
11 | 0.752 | 0.360 | X | 154010439 | downstream gene variant | C/A | snv | 0.040 | 0.500 | 4 | 2010 | 2018 | |||||
|
6 | 0.851 | 0.280 | X | 154013378 | missense variant | G/A | snv | 0.67 | 0.020 | 0.500 | 2 | 2010 | 2017 | ||||
|
2 | 0.925 | 0.200 | X | 153982797 | synonymous variant | G/A | snv | 0.27 | 0.15 | 0.810 | 1.000 | 2 | 2012 | 2017 | |||
|
7 | 0.807 | 0.280 | X | 154018741 | missense variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | X | 51367945 | intron variant | G/A | snv | 4.6E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
14 | 0.763 | 0.360 | X | 12885540 | missense variant | A/C;T | snv | 0.18 | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
16 | 0.716 | 0.480 | X | 49259429 | intron variant | T/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.882 | 0.200 | X | 139530726 | upstream gene variant | A/C | snv | 5.5E-06 | 1.9E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
10 | 0.752 | 0.480 | X | 12889539 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.120 | X | 40046169 | downstream gene variant | G/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | X | 154036016 | intron variant | C/G | snv | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | X | 47588525 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | X | 17719360 | missense variant | C/G;T | snv | 3.5E-05 | 2.9E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.200 | 22 | 39351666 | intron variant | T/A | snv | 0.37 | 0.810 | 1.000 | 4 | 2014 | 2019 | ||||
|
2 | 1.000 | 0.120 | 22 | 21624807 | downstream gene variant | T/C | snv | 0.28 | 0.800 | 1.000 | 3 | 2014 | 2019 | ||||
|
2 | 0.925 | 0.160 | 22 | 37148770 | intron variant | G/A | snv | 0.22 | 0.720 | 1.000 | 3 | 2008 | 2014 | ||||
|
7 | 0.827 | 0.200 | 22 | 37155567 | intron variant | A/G | snv | 0.36 | 0.820 | 1.000 | 3 | 2007 | 2014 | ||||
|
1 | 1.000 | 0.120 | 22 | 37149465 | intron variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2012 | 2015 | |||||
|
44 | 0.611 | 0.720 | 22 | 23894205 | intron variant | G/C | snv | 0.26 | 0.020 | 1.000 | 2 | 2012 | 2020 | ||||
|
1 | 1.000 | 0.120 | 22 | 19750832 | intergenic variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 22 | 30285268 | 3 prime UTR variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.827 | 0.280 | 22 | 30027471 | 3 prime UTR variant | C/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 22 | 21642781 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 22 | 39968182 | missense variant | C/A | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 |