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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.120 | 2 | 165367327 | stop gained | G/A;T | snv | 0.020 | 1.000 | 2 | 2009 | 2015 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 5 | 143312968 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.807 | 0.200 | X | 25012937 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
2 | 1.000 | 0.040 | X | 71110964 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.827 | 0.040 | 5 | 161890983 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.160 | 18 | 60373354 | intron variant | G/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 2 | 166065518 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.160 | X | 18579965 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.827 | 0.200 | X | 18584331 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.160 | 5 | 143376439 | intron variant | A/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.080 | 2 | 165310541 | missense variant | A/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.763 | 0.240 | X | 111685040 | missense variant | A/G | snv | 0.710 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.080 | 5 | 143350811 | intron variant | G/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
14 | 0.763 | 0.040 | 5 | 161873196 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 5 | 143347628 | intron variant | G/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.790 | 0.120 | 20 | 63439609 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.040 | 9 | 128220201 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 22 | 33435602 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.040 | 5 | 161890982 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.827 | 0.080 | 20 | 63444756 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.827 | 0.080 | 2 | 165374737 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 17 | 45836178 | intron variant | G/C;T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | X | 18604516 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | X | 18625224 | frameshift variant | -/CAGATCT | delins | 0.700 | 0 |