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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.040 | 1 | 156135968 | missense variant | G/A | snv | 5.6E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 1 | 156136258 | missense variant | G/A | snv | 8.0E-05 | 9.8E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
8 | 0.807 | 0.240 | 1 | 156138719 | missense variant | C/A;T | snv | 1.2E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 1 | 156134914 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
6 | 0.851 | 0.120 | 1 | 156137743 | splice region variant | C/T | snv | 0.26 | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.827 | 0.120 | 1 | 156138540 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
10 | 0.827 | 0.160 | 1 | 156134830 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.925 | 0.080 | 1 | 156135956 | missense variant | G/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.160 | 1 | 156137667 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 1 | 156126897 | missense variant | C/T | snv | 2.3E-04 | 6.3E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 1 | 156134883 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.776 | 0.200 | 1 | 156136094 | missense variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2003 | 2003 | |||||
|
11 | 0.790 | 0.200 | 1 | 156134838 | stop gained | C/T | snv | 7.0E-06 | 0.030 | 1.000 | 3 | 2007 | 2020 | ||||
|
7 | 0.807 | 0.240 | 1 | 156136359 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 17 | 1999 | 2012 | |||
|
2 | 0.925 | 0.040 | 1 | 156137191 | missense variant | G/A;C | snv | 8.6E-05 | 0.700 | 1.000 | 17 | 1999 | 2012 | ||||
|
2 | 0.925 | 0.040 | 1 | 156115192 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 17 | 1999 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 156115220 | missense variant | G/A;C;T | snv | 4.1E-06 | 0.700 | 1.000 | 17 | 1999 | 2012 | ||||
|
4 | 0.882 | 0.160 | 1 | 156134458 | missense variant | G/A;T | snv | 0.700 | 1.000 | 17 | 1999 | 2012 | |||||
|
1 | 1.000 | 0.040 | 1 | 156134518 | missense variant | T/G | snv | 0.700 | 1.000 | 17 | 1999 | 2012 | |||||
|
1 | 1.000 | 0.040 | 1 | 156135916 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 17 | 1999 | 2012 | |||
|
2 | 0.925 | 0.160 | 1 | 156136219 | missense variant | G/A;C | snv | 1.2E-05 | 0.700 | 1.000 | 17 | 1999 | 2012 | ||||
|
4 | 0.925 | 0.120 | 1 | 156135913 | stop gained | G/A;T | snv | 0.700 | 1.000 | 17 | 1999 | 2012 | |||||
|
1 | 1.000 | 0.040 | 1 | 156136010 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 17 | 1999 | 2012 | ||||
|
2 | 0.925 | 0.120 | 1 | 156115184 | missense variant | G/A;T | snv | 0.700 | 1.000 | 17 | 1999 | 2012 | |||||
|
1 | 1.000 | 0.040 | 1 | 156115207 | missense variant | A/G | snv | 0.700 | 1.000 | 17 | 1999 | 2012 |