| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.807 | 0.080 | 3 | 129528801 | missense variant | C/A | snv | 0.080 | 1.000 | 8 | 1992 | 2018 | |||||
|
4 | 0.851 | 0.080 | 3 | 129532288 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.776 | 0.160 | 19 | 47839335 | missense variant | C/T | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.925 | 0.080 | 8 | 18083991 | missense variant | T/G | snv | 4.5E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
6 | 0.807 | 0.080 | 6 | 42179248 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 5 | 149883511 | missense variant | C/T | snv | 5.2E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 8 | 54621163 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.080 | 1 | 156163009 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.040 | X | 18642053 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
10 | 0.807 | 0.080 | 3 | 129533711 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.040 | 11 | 77115423 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.080 | 3 | 129532282 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
2 | 0.925 | 0.040 | X | 18644530 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
6 | 0.827 | 0.080 | 1 | 68444858 | missense variant | G/A | snv | 5.6E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 22 | 40404615 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.080 | 5 | 149895227 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 |