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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 1 | 156136284 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 1999 | 2016 | |||||
|
11 | 0.776 | 0.200 | 1 | 156136094 | missense variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2003 | 2003 | |||||
|
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 | ||||
|
29 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 156134892 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 156134500 | missense variant | T/A;G | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.040 | 1 | 156136080 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 156136081 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 1 | 156137651 | splice region variant | C/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 1 | 156115096 | missense variant | C/G;T | snv | 0.800 | 0 | ||||||||
|
16 | 0.708 | 0.360 | 1 | 156135967 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.120 | 1 | 156136093 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 1 | 156135923 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.776 | 0.240 | 1 | 156114947 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 1 | 156137183 | stop gained | G/A;C | snv | 0.700 | 0 |