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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 0.500 | 2 | 2012 | 2013 | |||||
|
3 | 0.925 | 0.040 | 15 | 50424871 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2015 | 2018 | |||||
|
2 | 0.925 | 0.040 | 7 | 135230056 | upstream gene variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.040 | 7 | 5977709 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.040 | 1 | 247896410 | missense variant | T/C;G | snv | 0.58; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 20 | 32795683 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
4 | 0.882 | 0.040 | 1 | 106793679 | regulatory region variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.882 | 0.040 | 3 | 16598169 | missense variant | T/C;G | snv | 8.0E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.040 | 7 | 5992006 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | X | 30308211 | missense variant | C/A | snv | 1.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 7 | 5977709 | missense variant | T/A;C | snv | 2.5E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
19 | 0.708 | 0.520 | 19 | 10156401 | synonymous variant | T/A;C | snv | 0.52 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 14 | 24172747 | missense variant | C/G;T | snv | 2.4E-05; 3.0E-03 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 0.925 | 0.040 | 7 | 6005973 | missense variant | A/G | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 22296961 | missense variant | A/G | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.040 | 11 | 32434957 | missense variant | G/A | snv | 6.4E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
40 | 0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 3 | 37017520 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.040 | 7 | 5986916 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.050 | 1.000 | 5 | 2007 | 2016 | |||
|
2 | 0.925 | 0.040 | 7 | 5977755 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
6 | 0.827 | 0.120 | 1 | 11790377 | 3 prime UTR variant | C/T | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 |