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 | 0.080 | 18 | 52906134 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 1 | 152409644 | missense variant | C/T | snv | 0.21 | 0.15 | 0.700 | 0 | ||||||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
1 | 1.000 | 0.080 | 3 | 30691471 | missense variant | G/C | snv | 0.710 | 1.000 | 1 | 2000 | 2000 | |||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.080 | 1.000 | 8 | 2001 | 2019 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.030 | 0.667 | 3 | 2001 | 2019 | |||
|
24 | 0.683 | 0.480 | 17 | 7673806 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
3 | 0.925 | 0.080 | 12 | 68839304 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.040 | 0.750 | 4 | 2004 | 2013 | |||
|
38 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 0.030 | 1.000 | 3 | 2004 | 2013 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 1.000 | 11 | 2005 | 2014 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.925 | 0.080 | 10 | 133538938 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
11 | 0.763 | 0.160 | 7 | 55181312 | missense variant | G/T | snv | 0.700 | 1.000 | 2 | 2006 | 2014 | |||||
|
4 | 0.882 | 0.080 | 4 | 67919056 | missense variant | T/A;C;G | snv | 0.67 | 0.020 | 1.000 | 2 | 2006 | 2013 | ||||
|
12 | 0.763 | 0.480 | 18 | 63318540 | missense variant | C/T | snv | 1.8E-02 | 4.9E-03 | 0.020 | 1.000 | 2 | 2007 | 2012 | |||
|
4 | 0.882 | 0.200 | 10 | 89014312 | synonymous variant | G/A | snv | 4.0E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
28 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.710 | 1.000 | 2 | 2008 | 2016 | ||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.020 | 0.500 | 2 | 2008 | 2014 | ||||
|
36 | 0.637 | 0.320 | 3 | 138655502 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.080 | 0.875 | 8 | 2009 | 2015 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.070 | 0.857 | 7 | 2009 | 2015 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.070 | 0.857 | 7 | 2009 | 2015 |