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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.280 | 15 | 101277671 | upstream gene variant | C/A;T | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 19 | 10194877 | missense variant | G/C | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.240 | 14 | 102229508 | missense variant | A/G | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 14 | 102229547 | stop gained | G/A;C | snv | 4.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
12 | 0.851 | 0.280 | 19 | 10279982 | intron variant | C/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.050 | 1.000 | 5 | 2006 | 2018 | |||
|
14 | 0.716 | 0.400 | 11 | 102865911 | missense variant | T/C;G | snv | 7.1E-02; 2.5E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
32 | 0.662 | 0.640 | 3 | 10289773 | missense variant | G/T | snv | 8.8E-02 | 7.1E-02 | 0.020 | 1.000 | 2 | 2006 | 2014 | |||
|
6 | 0.851 | 0.200 | 12 | 109205840 | intron variant | G/A | snv | 0.14 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
3 | 0.882 | 0.160 | 13 | 109599813 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2010 | 2011 | |||||
|
16 | 0.776 | 0.400 | 19 | 1106616 | stop gained | T/A;C | snv | 4.2E-06; 0.58 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
16 | 0.742 | 0.400 | 19 | 11116926 | synonymous variant | C/T | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.120 | 3 | 112672327 | intergenic variant | A/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.030 | 1.000 | 3 | 2014 | 2018 | |||||
|
10 | 0.776 | 0.280 | 10 | 113149972 | intron variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
3 | 0.882 | 0.160 | 8 | 116961613 | intron variant | G/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.807 | 0.240 | 9 | 117711556 | intron variant | A/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
8 | 0.827 | 0.200 | 9 | 117713548 | stop gained | G/A;T | snv | 3.1E-03; 8.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 1.000 | 11 | 2000 | 2019 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.960 | 25 | 2000 | 2019 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.020 | 1.000 | 2 | 2015 | 2019 |