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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 1.000 | 24 | 1999 | 2018 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.040 | 1.000 | 4 | 1999 | 2007 | |||||
|
28 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.020 | 0.500 | 2 | 2008 | 2019 | ||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.020 | 0.500 | 2 | 1997 | 1999 | |||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
5 | 0.851 | 0.160 | 1 | 169691640 | 3 prime UTR variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
18 | 0.732 | 0.360 | 1 | 55063514 | missense variant | G/A | snv | 0.95 | 0.90 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
15 | 0.732 | 0.320 | 1 | 156138697 | synonymous variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 1.000 | 0.080 | 3 | 151338810 | synonymous variant | A/C | snv | 0.87 | 0.88 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
4 | 0.882 | 0.080 | 3 | 186732650 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 3 | 30671823 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 1.000 | 0.040 | 5 | 77035624 | missense variant | G/A | snv | 1.0E-02 | 9.9E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
7 | 0.827 | 0.320 | 6 | 160738593 | missense variant | G/A | snv | 1.4E-03 | 3.5E-04 | 0.010 | 1.000 | 1 | 1997 | 1997 | |||
|
1 | 6 | 85334045 | intergenic variant | A/T | snv | 1.8E-02 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
9 | 0.827 | 0.240 | 6 | 31575788 | missense variant | C/G;T | snv | 4.1E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.050 | 0.800 | 5 | 2001 | 2015 | ||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
60 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
26 | 0.695 | 0.520 | 9 | 22098575 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
28 | 0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 11 | 27700987 | 5 prime UTR variant | G/A;C | snv | 4.2E-06; 8.4E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
19 | 0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2011 | 2011 |