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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.200 | 14 | 102231805 | missense variant | C/A | snv | 2.4E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.080 | 9 | 104830968 | missense variant | C/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 4 | 105269705 | missense variant | T/A;C | snv | 6.4E-06; 3.4E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.776 | 0.280 | 12 | 112450361 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
13 | 0.742 | 0.320 | 12 | 112450398 | missense variant | C/T | snv | 0.040 | 0.750 | 4 | 2005 | 2015 | |||||
|
25 | 0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.040 | 1.000 | 4 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.080 | 9 | 117712543 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.080 | 1.000 | 8 | 2014 | 2019 | ||||
|
3 | 0.882 | 0.080 | 6 | 134966397 | missense variant | A/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.851 | 0.120 | 6 | 135106006 | upstream gene variant | C/A | snv | 0.24 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
3 | 0.925 | 0.080 | 3 | 168930251 | downstream gene variant | T/C | snv | 0.63 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
5 | 0.851 | 0.080 | 3 | 169143780 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.882 | 0.080 | 19 | 17837200 | missense variant | G/A | snv | 0.700 | 1.000 | 4 | 2010 | 2014 | |||||
|
3 | 1.000 | 0.080 | 3 | 196071416 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 3 | 24749884 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
9 | 0.827 | 0.320 | 12 | 25245345 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
15 | 0.732 | 0.240 | 11 | 32396399 | synonymous variant | T/C | snv | 0.24; 4.0E-06 | 0.17 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
12 | 0.776 | 0.080 | 1 | 36467833 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.120 | 22 | 40409754 | missense variant | G/A;C;T | snv | 3.3E-05; 8.2E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.120 | 1 | 43338136 | missense variant | G/T | snv | 3.5E-03 | 1.4E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.080 | 1 | 43349307 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
7 | 0.790 | 0.120 | 1 | 43349308 | missense variant | G/A | snv | 0.710 | 1.000 | 4 | 2008 | 2013 |