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 | 5 | 58988559 | missense variant | T/C | snv | 2.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
11 | 0.776 | 0.280 | X | 101403984 | missense variant | C/G | snv | 1.2E-04 | 1.9E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
6 | 0.851 | 0.280 | X | 154013378 | missense variant | G/A | snv | 0.67 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
26 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
13 | 0.763 | 0.360 | 3 | 12311699 | intron variant | C/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 10 | 15183055 | regulatory region variant | T/C | snv | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.827 | 0.280 | 4 | 87982701 | synonymous variant | C/G;T | snv | 0.32 | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
10 | 0.763 | 0.280 | 17 | 64350416 | missense variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 11 | 74005787 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 7 | 50463289 | missense variant | C/T | snv | 2.3E-02 | 5.5E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.827 | 0.200 | 5 | 170383792 | missense variant | C/T | snv | 9.9E-02 | 8.7E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
7 | 0.851 | 0.160 | 16 | 20389517 | intron variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.040 | 22 | 36281936 | 3 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.200 | 12 | 12718066 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.882 | 0.160 | 12 | 121625105 | upstream gene variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 6 | 31577208 | missense variant | G/T | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
5 | 0.851 | 0.200 | 18 | 23845972 | intron variant | G/A | snv | 0.47 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 3 | 148741522 | missense variant | G/A | snv | 6.3E-04 | 1.6E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 5 | 58989799 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 9 | 122392516 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 1.000 | 0.080 | 7 | 95316748 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 0.925 | 0.080 | 20 | 23629625 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 11 | 74006370 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 |