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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.120 | 17 | 41571506 | missense variant | G/A | snv | 0.860 | 1.000 | 6 | 2003 | 2016 | |||||
|
3 | 0.882 | 0.120 | 17 | 41571511 | missense variant | T/A;C | snv | 0.830 | 1.000 | 3 | 2002 | 2008 | |||||
|
1 | 1.000 | 0.080 | 17 | 41571512 | missense variant | T/A;G | snv | 0.820 | 1.000 | 2 | 2003 | 2004 | |||||
|
3 | 0.882 | 0.120 | 17 | 41571515 | missense variant | G/A;C | snv | 0.800 | 1.000 | 20 | 1994 | 2010 | |||||
|
1 | 1.000 | 0.080 | 17 | 41571482 | missense variant | C/T | snv | 0.800 | 1.000 | 20 | 1994 | 2010 | |||||
|
1 | 1.000 | 0.080 | 17 | 41571510 | missense variant | A/T | snv | 0.800 | 1.000 | 20 | 1994 | 2010 | |||||
|
1 | 1.000 | 0.080 | 17 | 41571490 | missense variant | A/G | snv | 0.800 | 1.000 | 20 | 1994 | 2010 | |||||
|
1 | 1.000 | 0.080 | 17 | 41571524 | missense variant | T/C;G | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 41571523 | missense variant | A/C;G;T | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 41571478 | missense variant | T/G | snv | 0.800 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 41571505 | missense variant | C/G;T | snv | 0.730 | 1.000 | 22 | 1994 | 2019 | |||||
|
1 | 1.000 | 0.080 | 17 | 41568196 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1994 | 2010 | |||||
|
1 | 1.000 | 0.080 | 17 | 41568184 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1994 | 2010 | |||||
|
1 | 1.000 | 0.080 | 17 | 41568340 | missense variant | A/G | snv | 1.2E-03 | 4.3E-04 | 0.700 | 1.000 | 20 | 1994 | 2010 | |||
|
1 | 1.000 | 0.080 | 17 | 41518338 | missense variant | G/A | snv | 3.7E-04 | 5.5E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 12 | 52678650 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 |