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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 3 | 106898231 | non coding transcript exon variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 2 | 109129746 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 9 | 14146790 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 4 | 185626897 | missense variant | C/G | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 4 | 185662115 | missense variant | C/G;T | snv | 6.0E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 1 | 226883748 | missense variant | G/A | snv | 8.6E-03 | 1.4E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
6 | 0.807 | 0.160 | 1 | 226883774 | missense variant | C/T | snv | 3.6E-03 | 3.4E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
5 | 0.827 | 0.080 | 1 | 226885546 | missense variant | C/G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.080 | 1 | 226885596 | missense variant | G/A;T | snv | 1.2E-04; 4.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
19 | 0.701 | 0.240 | 1 | 226885603 | missense variant | A/T | snv | 0.050 | 1.000 | 5 | 1997 | 2018 | |||||
|
1 | 1.000 | 0.080 | 1 | 226885618 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.080 | 1 | 226885669 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
10 | 0.807 | 0.120 | 1 | 226888977 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
5 | 0.851 | 0.160 | 1 | 226888979 | missense variant | G/A | snv | 0.040 | 1.000 | 4 | 2000 | 2012 | |||||
|
1 | 1.000 | 0.080 | 1 | 226891284 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.080 | 21 | 25891730 | missense variant | C/T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
8 | 0.790 | 0.120 | 21 | 25891772 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
4 | 0.851 | 0.080 | 21 | 25891783 | missense variant | A/C | snv | 0.060 | 1.000 | 6 | 1992 | 2007 | |||||
|
17 | 0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv | 0.100 | 0.909 | 11 | 1991 | 2019 | |||||
|
9 | 0.763 | 0.160 | 21 | 25891796 | missense variant | C/T | snv | 9.5E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
8 | 0.776 | 0.200 | 21 | 25891855 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.080 | 21 | 25897605 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
6 | 0.827 | 0.080 | 21 | 25897619 | missense variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2010 | 2017 | |||||
|
8 | 0.790 | 0.120 | 21 | 25897620 | missense variant | C/T | snv | 4.5E-04 | 3.0E-04 | 0.020 | 1.000 | 2 | 2014 | 2016 | |||
|
11 | 0.763 | 0.160 | 21 | 25897626 | missense variant | T/A;G | snv | 0.070 | 1.000 | 7 | 1994 | 2016 |