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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 12 | 65598856 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 2 | 217429494 | intron variant | C/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 4 | 76936952 | intergenic variant | G/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 14 | 36090325 | intron variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 1 | 233280792 | intron variant | T/C | snv | 0.60 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 1 | 107816883 | intron variant | T/C | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 8 | 32543285 | intron variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 3 | 59559604 | intron variant | G/A | snv | 0.80 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 1.000 | 10 | 2008 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 1.000 | 10 | 2008 | 2019 | |||||
|
15 | 0.742 | 0.200 | 9 | 97793827 | intron variant | A/G;T | snv | 0.070 | 0.714 | 7 | 2014 | 2018 | |||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.060 | 0.833 | 6 | 2009 | 2016 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.060 | 0.667 | 6 | 2009 | 2016 | |||
|
16 | 0.742 | 0.200 | 14 | 36180040 | upstream gene variant | C/T | snv | 0.45 | 0.040 | 0.750 | 4 | 2014 | 2018 | ||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.030 | 1.000 | 3 | 2013 | 2014 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2015 | 2015 | |||||
|
11 | 0.776 | 0.120 | 14 | 36269155 | regulatory region variant | C/T | snv | 2.3E-02 | 0.020 | < 0.001 | 2 | 2016 | 2016 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2011 | 2012 | |||
|
29 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 0.020 | 0.500 | 2 | 2011 | 2013 | |||||
|
10 | 0.776 | 0.160 | 9 | 97853632 | 5 prime UTR variant | A/G | snv | 0.63 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.020 | 1.000 | 2 | 2014 | 2016 | |||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 1.000 | 2 | 2015 | 2015 | |||||
|
2 | 0.925 | 14 | 75513546 | intergenic variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
35 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 0.010 | 1.000 | 1 | 2014 | 2014 |