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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 2 | 178590043 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 14 | 23427879 | missense variant | A/G | snv | 0.800 | 1.000 | 6 | 2000 | 2012 | |||||
|
1 | 1.000 | 0.040 | 14 | 23425413 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 6 | 2000 | 2012 | ||||
|
1 | 1.000 | 0.040 | 14 | 23431650 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 6 | 2000 | 2012 | ||||
|
1 | 1.000 | 0.040 | 14 | 23427271 | missense variant | G/A | snv | 0.700 | 1.000 | 6 | 2000 | 2012 | |||||
|
2 | 0.925 | 0.080 | 14 | 23417295 | missense variant | C/A;G;T | snv | 3.0E-04; 4.0E-06 | 0.700 | 1.000 | 6 | 2000 | 2012 | ||||
|
2 | 0.925 | 0.040 | 14 | 23430949 | missense variant | A/C | snv | 0.700 | 1.000 | 6 | 2000 | 2012 | |||||
|
1 | 1.000 | 0.040 | 14 | 23417580 | missense variant | C/T | snv | 0.700 | 1.000 | 6 | 2000 | 2012 | |||||
|
1 | 1.000 | 0.040 | 14 | 23416057 | missense variant | G/A;T | snv | 1.2E-05; 1.2E-05 | 0.700 | 1.000 | 6 | 2000 | 2012 | ||||
|
2 | 1.000 | 0.040 | 14 | 23431798 | missense variant | A/G;T | snv | 0.700 | 1.000 | 6 | 2000 | 2012 | |||||
|
1 | 1.000 | 0.040 | 14 | 23423590 | missense variant | G/T | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 6 | 2000 | 2012 | |||
|
1 | 1.000 | 0.040 | 14 | 23419548 | missense variant | G/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 6 | 2000 | 2012 | ||||
|
1 | 1.000 | 0.040 | 14 | 23419994 | missense variant | G/T | snv | 0.700 | 1.000 | 6 | 2000 | 2012 | |||||
|
9 | 0.763 | 0.160 | 14 | 23426833 | missense variant | C/T | snv | 8.0E-06 | 4.9E-05 | 0.700 | 1.000 | 5 | 1999 | 2014 | |||
|
6 | 0.807 | 0.080 | 14 | 23431589 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 14 | 23418304 | missense variant | G/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.040 | 14 | 23424119 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 14 | 23415164 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 10 | 110812301 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
10 | 0.763 | 0.160 | 14 | 23424059 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.040 | 1 | 77942756 | missense variant | A/G | snv | 7.2E-05 | 1.0E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 1 | 156137679 | missense variant | G/A | snv | 2.3E-04 | 2.4E-04 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.080 | 12 | 110913097 | missense variant | T/G | snv | 2.0E-04 | 2.9E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 14 | 23426012 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.080 | 14 | 23429297 | missense variant | T/C | snv | 0.700 | 0 |