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 | 0.882 | 0.080 | 3 | 186732650 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
2 | 11 | 27700987 | 5 prime UTR variant | G/A;C | snv | 4.2E-06; 8.4E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
9 | 0.827 | 0.240 | 6 | 31575788 | missense variant | C/G;T | snv | 4.1E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 3 | 30671823 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
18 | 0.732 | 0.320 | 12 | 121915884 | frameshift variant | G/-;GG | delins | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
15 | 0.732 | 0.320 | 1 | 156138697 | synonymous variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
24 | 0.683 | 0.320 | 17 | 80385145 | missense variant | G/A;C | snv | 2.6E-04; 8.0E-06 | 0.020 | 1.000 | 2 | 2018 | 2020 | ||||
|
28 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.020 | 0.500 | 2 | 2008 | 2019 | ||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.020 | 0.500 | 2 | 1997 | 1999 | |||
|
19 | 0.724 | 0.280 | 16 | 56983380 | missense variant | A/G | snv | 2.6E-03 | 6.5E-04 | 0.030 | 0.667 | 3 | 1999 | 2018 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.040 | 1.000 | 4 | 1999 | 2007 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.050 | 0.800 | 5 | 2001 | 2015 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 1.000 | 24 | 1999 | 2018 |