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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.080 | 1.000 | 8 | 2003 | 2020 | |||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.040 | 1.000 | 4 | 2017 | 2019 | ||||
|
1 | 1.000 | 0.120 | 1 | 224260357 | intron variant | C/A | snv | 1.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 1 | 243998680 | intron variant | G/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 1 | 4529823 | intergenic variant | C/T | snv | 6.1E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.776 | 0.360 | 1 | 7853370 | missense variant | G/A | snv | 0.51 | 0.52 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.160 | 1 | 159707006 | upstream gene variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 1 | 58696476 | intron variant | T/C | snv | 0.39 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
15 | 0.732 | 0.440 | 1 | 7849677 | missense variant | C/T | snv | 8.7E-02 | 5.6E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.120 | 1 | 18468761 | regulatory region variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.160 | 1 | 165419892 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 1 | 244013122 | intron variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 1 | 244006892 | intron variant | A/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.360 | 1 | 169593666 | synonymous variant | C/A;T | snv | 2.8E-05; 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.160 | 1 | 170411339 | regulatory region variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.200 | 1 | 216437370 | intergenic variant | C/T | snv | 0.94 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
1 | 1.000 | 0.120 | 1 | 247647989 | intron variant | G/T | snv | 4.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
33 | 0.645 | 0.560 | 1 | 196673103 | missense variant | G/A | snv | 0.32 | 0.40 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
12 | 0.807 | 0.240 | 2 | 11218994 | missense variant | G/C;T | snv | 0.49 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.050 | 0.600 | 5 | 2005 | 2017 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.040 | 0.750 | 4 | 2005 | 2017 | |||||
|
1 | 1.000 | 0.120 | 3 | 157136953 | downstream gene variant | G/A | snv | 7.9E-02 | 0.810 | 1.000 | 2 | 2011 | 2016 | ||||
|
1 | 1.000 | 0.120 | 3 | 57928451 | 3 prime UTR variant | T/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2015 | 2015 |