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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.120 | 6 | 106150148 | intron variant | G/A | snv | 0.47 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 19 | 35648270 | upstream gene variant | G/A | snv | 9.7E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.030 | 1.000 | 3 | 2010 | 2014 | ||||
|
11 | 0.790 | 0.200 | 19 | 48703374 | missense variant | A/T | snv | 3.6E-02 | 1.2E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
48 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
9 | 0.925 | 0.120 | 11 | 1759567 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.882 | 0.120 | 17 | 36102943 | upstream gene variant | G/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.080 | 8 | 53251002 | synonymous variant | C/A;T | snv | 0.11 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
6 | 0.882 | 0.040 | 19 | 47004177 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 5 | 80626901 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
4 | 0.925 | 0.080 | 21 | 26844557 | missense variant | G/A | snv | 4.2E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
6 | 0.827 | 0.120 | 16 | 82148499 | 3 prime UTR variant | T/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
35 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
22 | 0.695 | 0.280 | 4 | 54733166 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
10 | 0.851 | 0.080 | 2 | 29220747 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
14 | 0.763 | 0.200 | 17 | 39711955 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.807 | 0.120 | 7 | 116783374 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2005 | 2009 | |||||
|
31 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
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 | |||||
|
8 | 0.851 | 0.080 | X | 67723707 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.807 | 0.120 | 7 | 6387261 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
16 | 0.742 | 0.160 | 1 | 226064451 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
28 | 0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.742 | 0.080 | 6 | 27872233 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 |