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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
1 | 7 | 150856517 | missense variant | C/T | snv | 0.26 | 0.33 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 11 | 117286177 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
5 | 0.882 | 0.120 | 17 | 82265743 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.882 | 0.080 | 7 | 150860577 | missense variant | C/G;T | snv | 0.37 | 0.37 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
43 | 0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 2 | 132469969 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
12 | 0.776 | 0.160 | 10 | 60420054 | intron variant | C/T | snv | 7.5E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
23 | 0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
19 | 0.695 | 0.400 | 2 | 138002079 | missense variant | C/T | snv | 1.0E-01 | 8.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 13 | 35312538 | intron variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
2 | 1.000 | 0.040 | 15 | 69968889 | intergenic variant | T/C | snv | 0.61 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 6 | 89217243 | missense variant | T/C | snv | 0.27 | 0.22 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
4 | 0.925 | 0.080 | 19 | 13230185 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
12 | 0.790 | 0.120 | 19 | 13365448 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
5 | 0.851 | 0.080 | 2 | 165998049 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
11 | 0.807 | 0.120 | 11 | 27723312 | intron variant | T/C | snv | 0.16 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 10 | 112442768 | intron variant | A/G | snv | 7.9E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.040 | 2 | 166038072 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 |