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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.807 | 0.200 | 14 | 99691630 | non coding transcript exon variant | A/G | snv | 0.27 | 0.020 | 1.000 | 2 | 2009 | 2011 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
38 | 0.627 | 0.480 | 3 | 9756778 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.120 | 15 | 97027933 | intergenic variant | T/C | snv | 0.85 | 0.020 | 0.500 | 2 | 2012 | 2015 | ||||
|
3 | 0.925 | 0.040 | 13 | 95210754 | missense variant | C/A | snv | 4.9E-02 | 3.0E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.925 | 0.040 | 1 | 91611540 | TF binding site variant | G/A | snv | 0.81 | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 1 | 8699495 | intron variant | T/C | snv | 0.26 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 19 | 8589505 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.040 | 12 | 82698057 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 1 | 78491756 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 13 | 77800045 | intron variant | A/T | snv | 0.53 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.040 | 0.750 | 4 | 2009 | 2019 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.030 | 1.000 | 3 | 2009 | 2018 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.030 | 1.000 | 3 | 2009 | 2018 | |||||
|
1 | 1.000 | 0.040 | 16 | 76307609 | intron variant | A/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.882 | 0.120 | 17 | 74872110 | stop gained | G/A;C | snv | 4.1E-06; 4.1E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.040 | 17 | 74863112 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 14 | 74551266 | missense variant | C/A;T | snv | 1.3E-05; 2.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 14 | 74505102 | missense variant | T/C | snv | 6.8E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 14 | 74502911 | missense variant | C/G;T | snv | 4.0E-06; 1.3E-04 | 0.700 | 0 | |||||||
|
15 | 0.716 | 0.360 | 15 | 73929861 | intron variant | T/C | snv | 0.60 | 0.070 | 0.857 | 7 | 2008 | 2015 | ||||
|
15 | 0.716 | 0.320 | 15 | 73927241 | missense variant | G/A;C;T | snv | 0.18; 4.5E-06 | 0.070 | 0.571 | 7 | 2008 | 2015 | ||||
|
14 | 0.732 | 0.320 | 15 | 73927205 | missense variant | G/T | snv | 0.33 | 0.28 | 0.060 | 0.833 | 6 | 2008 | 2015 | |||
|
3 | 0.882 | 0.040 | 10 | 68252081 | regulatory region variant | A/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2012 | 2012 |