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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.020 | < 0.001 | 2 | 2004 | 2005 | |||
|
3 | 1.000 | 0.080 | 8 | 53251002 | synonymous variant | C/A;T | snv | 0.11 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
7 | 0.827 | 0.200 | 9 | 36036597 | upstream gene variant | T/A;C;G | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
34 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
38 | 0.645 | 0.480 | 4 | 71742666 | intron variant | T/G | snv | 0.21 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
65 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
38 | 0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
6 | 0.925 | 0.080 | 4 | 148827842 | intron variant | T/C | snv | 0.13 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
32 | 0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.080 | 11 | 101128246 | synonymous variant | G/A | snv | 2.8E-05 | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||
|
4 | 0.925 | 0.080 | 13 | 91351335 | mature miRNA variant | G/A;C | snv | 5.4E-03; 4.0E-06 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.020 | 0.500 | 2 | 2016 | 2019 | ||||
|
58 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 0.020 | 0.500 | 2 | 2012 | 2017 | |||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.020 | 0.500 | 2 | 2009 | 2018 | |||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.030 | 0.667 | 3 | 2013 | 2019 | ||||
|
48 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 0.030 | 0.667 | 3 | 2013 | 2014 | |||||
|
31 | 0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv | 0.080 | 0.750 | 8 | 2003 | 2019 | |||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 0.875 | 88 | 2003 | 2019 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 0.876 | 89 | 2003 | 2019 | ||||
|
70 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 0.090 | 1.000 | 9 | 2013 | 2019 | |||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.060 | 1.000 | 6 | 2009 | 2016 | ||||
|
46 | 0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 | 0.050 | 1.000 | 5 | 2007 | 2013 | ||||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.040 | 1.000 | 4 | 2012 | 2018 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.040 | 1.000 | 4 | 2012 | 2018 | |||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.040 | 1.000 | 4 | 2012 | 2018 |