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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.716 | 0.240 | 10 | 122454932 | missense variant | G/T | snv | 0.26 | 0.23 | 0.900 | 0.979 | 97 | 2006 | 2019 | |||
|
14 | 0.724 | 0.280 | 10 | 122461028 | non coding transcript exon variant | G/A | snv | 0.23 | 0.900 | 0.900 | 50 | 2006 | 2019 | ||||
|
10 | 0.763 | 0.360 | 6 | 31936027 | missense variant | G/A;C | snv | 4.1E-06; 3.9E-02 | 0.860 | 1.000 | 8 | 2006 | 2018 | ||||
|
9 | 0.807 | 0.160 | 1 | 196733680 | intron variant | C/T | snv | 0.44 | 0.830 | 1.000 | 6 | 2006 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 31933767 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.040 | 1.000 | 4 | 2006 | 2010 | |||
|
5 | 0.882 | 0.040 | 1 | 196651787 | upstream gene variant | C/T | snv | 0.22 | 0.040 | 1.000 | 4 | 2006 | 2019 | ||||
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.720 | 1.000 | 3 | 2006 | 2018 | |||
|
3 | 0.882 | 0.200 | 6 | 31943672 | missense variant | A/C | snv | 4.1E-06 | 0.030 | 1.000 | 3 | 2006 | 2009 | ||||
|
23 | 0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.120 | 14 | 91870336 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.040 | 6 | 43780784 | missense variant | C/A;T | snv | 4.0E-06; 2.8E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
5 | 0.827 | 0.160 | 20 | 25077762 | missense variant | T/C;G | snv | 2.7E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
6 | 0.827 | 0.200 | 6 | 43782077 | missense variant | C/G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.120 | 14 | 91887283 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
7 | 0.790 | 0.160 | 6 | 31946403 | missense variant | G/A;T | snv | 9.6E-02; 4.1E-06 | 0.900 | 0.947 | 19 | 2007 | 2019 | ||||
|
11 | 0.807 | 0.240 | 1 | 196727803 | intron variant | G/A | snv | 0.46 | 0.900 | 0.929 | 14 | 2007 | 2019 | ||||
|
3 | 0.882 | 0.160 | 6 | 31943161 | intron variant | G/T | snv | 0.12 | 0.100 | 1.000 | 14 | 2007 | 2018 | ||||
|
11 | 0.776 | 0.240 | 1 | 196713817 | synonymous variant | G/A;C;T | snv | 0.44 | 0.080 | 1.000 | 8 | 2007 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 196685194 | synonymous variant | A/C | snv | 0.68 | 0.62 | 0.810 | 1.000 | 2 | 2007 | 2013 | |||
|
2 | 0.925 | 0.040 | 6 | 31933645 | missense variant | G/A;T | snv | 2.0E-05; 1.6E-05 | 0.020 | 1.000 | 2 | 2007 | 2012 | ||||
|
1 | 1.000 | 0.040 | 10 | 122395865 | intron variant | C/T | snv | 0.48 | 0.710 | 1.000 | 2 | 2007 | 2013 | ||||
|
1 | 1.000 | 0.040 | 7 | 33199222 | intron variant | A/G | snv | 0.19 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.120 | X | 97043550 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.120 | 6 | 43777370 | non coding transcript exon variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.160 | 11 | 57610852 | intron variant | C/T | snv | 0.39 | 0.070 | 0.714 | 7 | 2008 | 2015 |