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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.701 | 0.280 | 8 | 89978293 | missense variant | T/C;G | snv | 1.2E-03 | 0.720 | 1.000 | 2 | 2004 | 2014 | ||||
|
3 | 0.882 | 0.120 | 5 | 1294282 | missense variant | C/T | snv | 3.2E-04 | 1.8E-04 | 0.700 | 1.000 | 4 | 2005 | 2009 | |||
|
3 | 0.882 | 0.120 | 5 | 1279341 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 2005 | 2009 | ||||
|
1 | 1.000 | 0.040 | 5 | 1272213 | missense variant | G/A;C;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 4 | 2005 | 2009 | ||||
|
3 | 0.882 | 0.040 | 7 | 66994211 | splice donor variant | C/G | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
9 | 0.851 | 0.040 | 7 | 66994210 | splice donor variant | A/C;G | snv | 4.0E-06; 3.9E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 5 | 1278750 | missense variant | G/A | snv | 5.2E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
17 | 0.790 | 0.400 | 1 | 92833544 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 10 | 70598558 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.160 | 5 | 1280216 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 5 | 1279376 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.040 | 5 | 1293652 | missense variant | G/A;T | snv | 3.3E-03; 6.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.160 | 8 | 89947835 | stop gained | T/A | snv | 3.9E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.160 | 8 | 89943297 | stop gained | G/A;C | snv | 2.4E-05; 4.0E-05 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.160 | 8 | 89958819 | stop gained | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.020 | 1.000 | 2 | 2005 | 2016 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.020 | 1.000 | 2 | 2012 | 2018 | ||||
|
20 | 0.701 | 0.440 | 2 | 241850169 | 3 prime UTR variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.776 | 0.360 | 9 | 120942809 | regulatory region variant | A/G | snv | 0.51 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
10 | 0.752 | 0.400 | 1 | 67274409 | upstream gene variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 10 | 88990905 | missense variant | T/C | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2016 | 2016 |