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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.200 | 2 | 72888457 | missense variant | A/G | snv | 5.6E-05 | 5.6E-05 | 0.700 | 1.000 | 5 | 2001 | 2013 | |||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
7 | 0.827 | 0.320 | 7 | 5528536 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.040 | 14 | 54844023 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
2 | 1.000 | 0.160 | 18 | 23544424 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 19 | 35720980 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 1.000 | 19 | 35721775 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
53 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.080 | 15 | 52340235 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
13 | 0.827 | 0.280 | 5 | 157294834 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 18 | 23534477 | missense variant | G/A;C | snv | 1.2E-04 | 0.700 | 0 | |||||||||
|
7 | 0.827 | 0.400 | 1 | 1806512 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 3 | 184140517 | missense variant | C/G;T | snv | 1.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
64 | 0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 | 0.700 | 0 | |||||||
|
7 | 0.851 | 0.080 | 17 | 68386068 | intron variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.160 | 9 | 129813781 | 3 prime UTR variant | C/A | snv | 0.17 | 0.020 | 1.000 | 2 | 2009 | 2015 | ||||
|
3 | 1.000 | 0.040 | 2 | 178436264 | missense variant | G/A | snv | 9.9E-05 | 9.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.925 | 0.080 | 22 | 38115667 | missense variant | G/A | snv | 9.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 1.000 | 0.200 | 2 | 72891502 | stop gained | A/T | snv | 8.0E-05 | 5.6E-05 | 0.700 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.925 | 0.040 | 11 | 2165727 | stop gained | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.925 | 0.040 | 11 | 2167896 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.710 | 1.000 | 8 | 1991 | 2014 | |||
|
14 | 0.807 | 0.360 | 16 | 74774623 | missense variant | C/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
4 | 9 | 2641436 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 2 | 190208898 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |