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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.851 | 0.320 | 17 | 3664199 | missense variant | A/C;G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
6 | 0.807 | 0.280 | 12 | 120997504 | missense variant | C/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
6 | 0.807 | 0.280 | 12 | 120994264 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
46 | 0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
12 | 0.790 | 0.440 | 7 | 140777014 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.280 | 12 | 120994315 | frameshift variant | C/-;CC;CCC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 12 | 120993601 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.807 | 0.280 | 12 | 120996568 | missense variant | C/A;G;T | snv | 2.4E-05; 1.9E-04; 3.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | X | 49257483 | missense variant | G/A | snv | 2.2E-05 | 0.700 | 0 | |||||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.020 | < 0.001 | 2 | 2013 | 2019 | |||||
|
4 | 0.882 | 0.200 | 7 | 50409515 | downstream gene variant | T/C | snv | 0.24 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
34 | 0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
12 | 0.732 | 0.480 | 2 | 191079016 | intron variant | C/T | snv | 0.21 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 6 | 31354503 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||
|
3 | 0.925 | 0.200 | 1 | 113877706 | 3 prime UTR variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||||
|
12 | 0.763 | 0.480 | 18 | 63318540 | missense variant | C/T | snv | 1.8E-02 | 4.9E-03 | 0.010 | < 0.001 | 1 | 2001 | 2001 | |||
|
29 | 0.653 | 0.480 | 19 | 48234449 | missense variant | A/T | snv | 0.33 | 0.29 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
16 | 0.742 | 0.320 | 18 | 52906232 | missense variant | C/A;G | snv | 0.45 | 0.010 | < 0.001 | 1 | 2003 | 2003 | ||||
|
61 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 19 | 41579520 | missense variant | G/A | snv | 0.36 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 5 | 96937594 | non coding transcript exon variant | C/T | snv | 0.41 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 2 | 191058115 | splice region variant | G/A | snv | 0.64 | 0.56 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
23 | 0.689 | 0.560 | 1 | 247425556 | missense variant | C/A | snv | 3.9E-02 | 3.3E-02 | 0.010 | < 0.001 | 1 | 2019 | 2019 |