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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.030 | 1.000 | 3 | 2013 | 2014 | ||||
|
2 | 0.925 | 0.080 | 8 | 127400902 | non coding transcript exon variant | C/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 2 | 1492028 | intron variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
9 | 0.790 | 0.240 | 13 | 102862735 | missense variant | G/A;C | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
60 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
8 | 0.807 | 0.240 | 5 | 87399457 | missense variant | A/G;T | snv | 0.18 | 0.17 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
48 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.776 | 0.240 | 9 | 21968160 | 3 prime UTR variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.763 | 0.320 | 9 | 21984662 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.827 | 0.160 | 2 | 1496155 | missense variant | A/C;G | snv | 0.43 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
15 | 0.742 | 0.200 | 9 | 97793827 | intron variant | A/G;T | snv | 0.070 | 0.714 | 7 | 2014 | 2018 | |||||
|
16 | 0.742 | 0.200 | 14 | 36180040 | upstream gene variant | C/T | snv | 0.45 | 0.040 | 0.750 | 4 | 2014 | 2018 | ||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.020 | 1.000 | 2 | 2014 | 2016 | |||
|
2 | 0.925 | 14 | 75513546 | intergenic variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
35 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
31 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 13 | 24243875 | intron variant | C/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 7 | 30497778 | missense variant | A/C;G | snv | 8.1E-06; 8.1E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 5 | 78910960 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
37 | 0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 20 | 39318791 | intergenic variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2015 | 2015 |