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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.200 | 17 | 39872381 | missense variant | G/T | snv | 0.45 | 0.45 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.080 | 19 | 52048768 | 5 prime UTR variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.160 | 10 | 62631615 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.080 | 3 | 141431184 | intron variant | A/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
81 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
56 | 0.576 | 0.760 | 12 | 47845054 | intron variant | C/A | snv | 0.51 | 0.55 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.080 | 13 | 99322238 | intron variant | C/G | snv | 0.55 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 12 | 71139430 | intron variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 12 | 57747080 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.790 | 0.240 | 12 | 109792396 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.925 | 0.080 | 12 | 109814742 | missense variant | G/A;C | snv | 3.7E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 17 | 3566559 | 3 prime UTR variant | A/C | snv | 0.55 | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||
|
11 | 0.827 | 0.200 | 17 | 3577153 | missense variant | T/C | snv | 0.37 | 0.32 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.080 | 6 | 30202733 | intron variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 14 | 102777733 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 17 | 40401272 | intron variant | G/A | snv | 9.1E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 1 | 173194429 | intron variant | A/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.160 | 18 | 62342581 | intron variant | C/T | snv | 0.55 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
25 | 0.677 | 0.360 | 4 | 38797027 | missense variant | C/A | snv | 0.53 | 0.51 | 0.700 | 1.000 | 2 | 2019 | 2019 | |||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
48 | 0.597 | 0.840 | 19 | 41352971 | missense variant | C/G;T | snv | 5.6E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.120 | 12 | 54974507 | missense variant | C/T | snv | 4.5E-02 | 4.4E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | |||
|
2 | 0.925 | 0.080 | 17 | 47741840 | intron variant | A/T | snv | 9.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 |