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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.807 | 0.120 | 22 | 19965038 | 3 prime UTR variant | G/A | snv | 0.27 | 0.040 | 1.000 | 4 | 2013 | 2018 | ||||
|
6 | 0.882 | 0.120 | 12 | 63153459 | intron variant | T/C | snv | 0.26 | 0.030 | 1.000 | 3 | 2011 | 2019 | ||||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.030 | 1.000 | 3 | 2010 | 2020 | ||||
|
55 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2009 | 2015 | |||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2014 | 2019 | |||||
|
10 | 0.827 | 0.240 | 22 | 19962429 | 5 prime UTR variant | A/G | snv | 0.38 | 0.030 | 1.000 | 3 | 2014 | 2019 | ||||
|
43 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
2 | 1.000 | 0.040 | 6 | 154086832 | 5 prime UTR variant | C/T | snv | 9.8E-02 | 0.020 | 1.000 | 2 | 2009 | 2017 | ||||
|
4 | 0.925 | 0.040 | 2 | 233916448 | upstream gene variant | T/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
14 | 0.763 | 0.320 | 17 | 30197993 | 3 prime UTR variant | A/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.040 | 14 | 54839739 | downstream gene variant | G/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.120 | 12 | 114398675 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
13 | 0.763 | 0.200 | 2 | 101994530 | intron variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 3 | 38904493 | intron variant | C/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 38924745 | intron variant | G/T | snv | 1.0E-01 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 38865054 | intron variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 2 | 166325017 | intron variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 8 | 72037366 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
33 | 0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
10 | 0.776 | 0.320 | 7 | 140753332 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 3 | 88765985 | intergenic variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 148826178 | 5 prime UTR variant | G/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 16 | 28979446 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 1.000 | 0.120 | 22 | 42128944 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 17 | 76503318 | upstream gene variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 |