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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.240 | 3 | 49131128 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
3 | 0.925 | 0.040 | 9 | 136508308 | missense variant | G/A;C | snv | 1.5E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 10 | 70871945 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 6 | 71404009 | intron variant | G/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
17 | 0.742 | 0.560 | 16 | 3243447 | missense variant | C/A;G;T | snv | 1.0E-04; 8.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
6 | 0.827 | 0.120 | 9 | 136495945 | 3 prime UTR variant | C/T | snv | 0.62 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.080 | 9 | 136509318 | intron variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
12 | 0.776 | 0.360 | 5 | 143317730 | intron variant | A/T | snv | 0.53 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.882 | 0.280 | 5 | 143320934 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 1.000 | 14 | 73961339 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||
|
2 | 1.000 | 0.080 | 19 | 35843517 | synonymous variant | G/A;C | snv | 7.9E-02; 1.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 6 | 85479802 | intron variant | T/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
16 | 0.724 | 0.200 | 11 | 46729529 | missense variant | G/A | snv | 1.6E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
1 | 20 | 49987403 | intron variant | T/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
5 | 0.851 | 0.080 | 1 | 179561328 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
44 | 0.611 | 0.720 | 22 | 23894205 | intron variant | G/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 6 | 85465856 | intron variant | G/A | snv | 0.43 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.020 | 1.000 | 2 | 2011 | 2018 | |||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
20 | 0.701 | 0.240 | 1 | 179557079 | missense variant | C/T | snv | 3.0E-02 | 2.8E-02 | 0.060 | 0.833 | 6 | 2004 | 2019 | |||
|
11 | 0.827 | 0.320 | 2 | 216478216 | stop gained | G/T | snv | 8.0E-05 | 1.3E-04 | 0.700 | 1.000 | 3 | 2002 | 2014 |