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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.807 | 0.160 | 17 | 65536495 | stop gained | G/A | snv | 0.020 | 1.000 | 2 | 2004 | 2016 | |||||
|
2 | 0.925 | 0.080 | 4 | 4863139 | frameshift variant | -/TA | delins | 0.710 | 1.000 | 2 | 1996 | 2014 | |||||
|
6 | 0.807 | 0.200 | 17 | 65536472 | stop gained | C/G;T | snv | 0.020 | 1.000 | 2 | 2011 | 2015 | |||||
|
1 | 1.000 | 0.080 | X | 70033470 | missense variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2009 | 2014 | |||||
|
3 | 0.882 | 0.240 | 8 | 38418249 | missense variant | C/A;T | snv | 1.2E-05; 2.0E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 17 | 50195463 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 14 | 36666547 | missense variant | C/G;T | snv | 4.9E-06; 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 19 | 37413765 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 14 | 36663072 | stop gained | C/A | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
8 | 0.776 | 0.160 | 2 | 143201176 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.080 | 14 | 36662975 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 0.925 | 0.080 | 4 | 4860247 | synonymous variant | C/G;T | snv | 4.8E-06; 6.8E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.776 | 0.160 | 2 | 88438931 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.776 | 0.160 | 3 | 71414748 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 14 | 36663506 | missense variant | G/A;C;T | snv | 4.2E-06; 4.2E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.080 | 2 | 218882358 | missense variant | G/A | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 17 | 4819581 | missense variant | G/A;C | snv | 0.15; 4.1E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 7 | 148827254 | missense variant | C/A;T | snv | 6.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 3 | 53822023 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 0.807 | 0.240 | 17 | 50194375 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 7 | 94410501 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 17 | 65558307 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 14 | 36663308 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
8 | 0.776 | 0.160 | 17 | 67718094 | splice region variant | G/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 14 | 36676436 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 |