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 | 4 | 40354405 | missense variant | A/G | snv | 0.78 | 0.76 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
30 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.22 | 0.30 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
11 | 0.827 | 0.280 | 2 | 136114915 | stop gained | G/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
22 | 0.695 | 0.280 | 4 | 54733166 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 1.000 | 0.080 | 9 | 130872201 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 0.857 | 14 | 2010 | 2019 | ||||
|
55 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
30 | 0.653 | 0.400 | 14 | 61740857 | missense variant | G/A | snv | 8.9E-03 | 7.0E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
15 | 0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.080 | 19 | 41479679 | non coding transcript exon variant | G/A | snv | 0.42 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
70 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 0.040 | 1.000 | 4 | 2016 | 2019 | |||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 0.857 | 14 | 2010 | 2019 | |||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.050 | 0.800 | 5 | 2011 | 2017 | ||||
|
10 | 0.790 | 0.120 | 17 | 51161744 | missense variant | A/G | snv | 6.0E-05 | 7.0E-05 | 0.010 | 1.000 | 1 | 1995 | 1995 | |||
|
25 | 0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
19 | 0.716 | 0.160 | 7 | 106867593 | missense variant | T/G | snv | 8.4E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
13 | 0.827 | 0.200 | 14 | 102251978 | missense variant | A/G | snv | 1.4E-05 | 0.020 | 1.000 | 2 | 2011 | 2016 | ||||
|
13 | 0.807 | 0.080 | 5 | 143400101 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.882 | 0.120 | 17 | 7673255 | synonymous variant | G/A | snv | 5.3E-06 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
10 | 0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2002 | 2002 |