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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
36 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.800 | 0.800 | 10 | 1997 | 2004 | |||
|
55 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 0.770 | 1.000 | 7 | 2007 | 2019 | ||||
|
16 | 0.708 | 0.160 | 18 | 48927093 | intron variant | T/A;C | snv | 0.750 | 1.000 | 5 | 2007 | 2019 | |||||
|
9 | 0.724 | 0.160 | 10 | 8659256 | upstream gene variant | G/A | snv | 0.24 | 0.720 | 1.000 | 2 | 2008 | 2019 | ||||
|
17 | 0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 | 0.720 | 1.000 | 2 | 2008 | 2019 | ||||
|
5 | 0.742 | 0.160 | 19 | 33041394 | intron variant | C/T | snv | 0.22 | 0.710 | 1.000 | 1 | 2008 | 2019 | ||||
|
11 | 0.724 | 0.240 | 18 | 48927559 | intron variant | C/T | snv | 0.36 | 0.710 | 1.000 | 1 | 2010 | 2017 | ||||
|
10 | 0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 | 0.710 | 1.000 | 1 | 2008 | 2019 | ||||
|
45 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.710 | 1.000 | 1 | 2004 | 2004 | ||||
|
70 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.710 | 1.000 | 1 | 2011 | 2016 | ||||
|
24 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 0.710 | 1.000 | 1 | 2015 | 2015 | |||
|
15 | 0.701 | 0.240 | 14 | 53944201 | downstream gene variant | T/C | snv | 0.43 | 0.710 | 1.000 | 1 | 2008 | 2019 | ||||
|
8 | 0.732 | 0.160 | 15 | 32702555 | intergenic variant | T/C | snv | 0.67 | 0.710 | 1.000 | 1 | 2008 | 2015 | ||||
|
2 | 0.776 | 0.080 | 19 | 45818249 | intron variant | A/G | snv | 1.9E-02 | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.732 | 0.120 | 6 | 160419220 | intron variant | G/A;T | snv | 0.710 | 1.000 | 1 | 2011 | 2011 | |||||
|
7 | 0.732 | 0.240 | 20 | 6423634 | intergenic variant | C/A | snv | 0.34 | 0.710 | 1.000 | 1 | 2008 | 2019 | ||||
|
8 | 0.732 | 0.160 | 16 | 68787043 | intron variant | G/A | snv | 0.28 | 0.710 | 1.000 | 1 | 2008 | 2013 | ||||
|
484 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 0.943 | 35 | 2004 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 0.943 | 35 | 2004 | 2019 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 1.000 | 11 | 2003 | 2015 | |||
|
48 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 0.100 | 1.000 | 11 | 2012 | 2018 | |||||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.100 | 0.800 | 10 | 1997 | 2004 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.090 | 0.889 | 9 | 2004 | 2014 | |||||
|
24 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 0.050 | 1.000 | 5 | 2006 | 2019 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.040 | 0.500 | 4 | 2005 | 2009 |