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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.280 | 8 | 39908329 | intron variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.160 | 13 | 33054001 | missense variant | T/A;G | snv | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.200 | 11 | 68682735 | upstream gene variant | C/T | snv | 0.65 | 0.020 | 1.000 | 2 | 2010 | 2018 | ||||
|
13 | 0.827 | 0.080 | 6 | 35678658 | intron variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2011 | 2019 | |||||
|
3 | 0.925 | 0.080 | 15 | 51287401 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
16 | 0.763 | 0.080 | 6 | 35599305 | intron variant | A/G | snv | 0.65 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
1 | 17 | 76081416 | 3 prime UTR variant | G/A;C;T | snv | 1.6E-05; 0.54; 4.8E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 0.925 | 0.080 | 1 | 155235002 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
7 | 0.851 | 0.120 | 12 | 117937681 | intron variant | A/G | snv | 0.83 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 18 | 49583585 | missense variant | A/C;G | snv | 4.0E-06; 8.7E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
7 | 0.851 | 0.120 | 17 | 63477287 | missense variant | G/A | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
35 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.964 | 28 | 2007 | 2020 | ||||
|
1 | 2 | 133887223 | regulatory region variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 0.882 | 0.120 | 1 | 236850389 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1 | 236885125 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
13 | 0.763 | 0.280 | 11 | 49154384 | stop gained | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 6 | 6002360 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 11 | 18029360 | missense variant | C/T | snv | 3.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
14 | 0.752 | 0.240 | 22 | 19968597 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
9 | 0.851 | 0.120 | 22 | 41381096 | intron variant | G/T | snv | 0.76 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 3 | 52801338 | intron variant | C/T | snv | 0.47 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 17 | 59110368 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 4 | 186491213 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 |