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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
31 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.710 | 1.000 | 1 | 2017 | 2018 | |||
|
21 | 0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 1991 | 2016 | ||||
|
70 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 0.100 | 1.000 | 15 | 2013 | 2019 | |||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.030 | 1.000 | 3 | 2007 | 2013 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.030 | 1.000 | 3 | 2007 | 2013 | |||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.030 | 1.000 | 3 | 2007 | 2013 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.020 | 1.000 | 2 | 2006 | 2012 | ||||
|
36 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 0.020 | 0.500 | 2 | 2013 | 2014 | ||||
|
4 | 0.790 | 0.240 | 6 | 28808340 | intergenic variant | G/A | snv | 7.2E-02 | 0.020 | 1.000 | 2 | 2010 | 2011 | ||||
|
3 | 0.882 | 0.120 | 2 | 201287058 | 3 prime UTR variant | T/C | snv | 0.10 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
9 | 0.807 | 0.080 | 3 | 189665394 | intron variant | C/T | snv | 0.38 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
42 | 0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
17 | 0.724 | 0.160 | 7 | 55191831 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
49 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||||
|
51 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.080 | 7 | 50567279 | upstream gene variant | T/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
44 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 12 | 120215202 | missense variant | G/C | snv | 4.3E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
17 | 0.724 | 0.360 | 13 | 30467458 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.827 | 0.200 | 1 | 155192002 | missense variant | G/A;T | snv | 4.6E-06; 9.1E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
12 | 0.742 | 0.360 | 20 | 46119460 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
187 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
34 | 0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 | 0.010 | 1.000 | 1 | 2011 | 2011 |