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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.882 | 0.120 | 5 | 40791782 | intron variant | C/T | snv | 0.31 | 0.780 | 1.000 | 9 | 2011 | 2018 | ||||
|
7 | 0.827 | 0.120 | 3 | 114643917 | intron variant | C/G;T | snv | 0.720 | 0.667 | 3 | 2011 | 2016 | |||||
|
1 | 1.000 | 0.080 | 20 | 42472359 | missense variant | G/A | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 37004421 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 37004412 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.160 | 2 | 47480707 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 2 | 47480846 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 47480854 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 47403240 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 37048525 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 47480839 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 7 | 116771932 | missense variant | C/T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 7 | 116759444 | missense variant | C/T | snv | 1.2E-04 | 8.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 16 | 68822082 | missense variant | G/A | snv | 1.6E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
28 | 0.672 | 0.320 | 8 | 142680513 | 5 prime UTR variant | C/T | snv | 0.46 | 0.45 | 0.100 | 0.968 | 31 | 2009 | 2019 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.870 | 23 | 2004 | 2018 | |||
|
40 | 0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 | 0.100 | 1.000 | 17 | 2010 | 2019 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.100 | 0.750 | 16 | 2002 | 2018 | |||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.100 | 0.750 | 16 | 2010 | 2017 | |||
|
22 | 0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 | 0.100 | 1.000 | 16 | 2011 | 2018 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.100 | 0.800 | 15 | 2001 | 2017 | |||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.100 | 0.857 | 14 | 2012 | 2018 | ||||
|
15 | 0.724 | 0.360 | 13 | 102845848 | 5 prime UTR variant | A/G | snv | 0.76 | 0.100 | 0.833 | 12 | 2012 | 2019 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.100 | 0.909 | 11 | 2009 | 2018 | ||||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.100 | 0.727 | 11 | 2010 | 2017 |