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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.672 | 0.440 | 6 | 46709361 | missense variant | C/A | snv | 4.5E-03 | 1.3E-03 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.040 | 7 | 94404745 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 7 | 73478187 | missense variant | T/C | snv | 3.3E-04 | 3.5E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 7 | 94426426 | missense variant | C/G;T | snv | 4.6E-06; 9.3E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.040 | 1.000 | 4 | 2007 | 2013 | |||
|
4 | 0.882 | 0.160 | 8 | 75566533 | 3 prime UTR variant | C/T | snv | 0.52 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.160 | 8 | 10002570 | intron variant | G/C | snv | 0.85 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 10 | 87159562 | intron variant | C/T | snv | 0.69 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.160 | 11 | 64591814 | synonymous variant | C/T | snv | 0.57 | 0.51 | 0.020 | 1.000 | 2 | 2015 | 2018 | |||
|
5 | 0.827 | 0.240 | 11 | 64592802 | synonymous variant | T/C | snv | 0.57 | 0.51 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.120 | 11 | 64590769 | 5 prime UTR variant | A/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.807 | 0.240 | 11 | 64593747 | stop gained | G/A;C | snv | 2.8E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.763 | 0.280 | 11 | 18269774 | synonymous variant | T/C | snv | 0.42 | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 11 | 64598551 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.882 | 0.200 | 11 | 2527999 | missense variant | C/T | snv | 1.6E-04 | 3.6E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.882 | 0.120 | 11 | 2847803 | missense variant | G/A;T | snv | 7.2E-05; 5.5E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.200 | 11 | 64592788 | missense variant | G/A;C | snv | 4.8E-05; 9.6E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 64598471 | intron variant | T/A;C | snv | 6.5E-06; 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
48 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 11 | 64591802 | missense variant | C/A;T | snv | 4.0E-06; 3.7E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 11 | 64596819 | intron variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.160 | 11 | 64589600 | upstream gene variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 11 | 64591133 | 5 prime UTR variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
24 | 0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 11 | 64593570 | intron variant | G/A | snv | 9.4E-04 | 2.4E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 |