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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
36 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.360 | 11 | 61774051 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.750 | 1.000 | 5 | 2006 | 2012 | ||||
|
9 | 0.776 | 0.280 | 3 | 10149921 | missense variant | C/T | snv | 2.1E-04 | 1.0E-04 | 0.030 | 1.000 | 3 | 2005 | 2014 | |||
|
2 | 0.925 | 0.040 | 3 | 10149894 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2013 | 2014 | |||||
|
4 | 0.925 | 0.040 | 3 | 10146549 | missense variant | G/A;C;T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.120 | 1 | 231421509 | missense variant | C/G | snv | 0.10 | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.040 | 2 | 46380281 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 19 | 11378049 | missense variant | G/A | snv | 7.7E-03 | 5.3E-03 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
1 | 1.000 | 0.040 | 2 | 96253927 | missense variant | G/A;T | snv | 8.0E-06; 2.8E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.040 | 3 | 10142082 | missense variant | C/G;T | snv | 2.2E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 7 | 100722981 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.040 | 11 | 5225620 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 1995 | 1995 | |||||
|
1 | 1.000 | 0.040 | 11 | 5225626 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1995 | 1995 | |||||
|
9 | 0.776 | 0.320 | 3 | 10149885 | missense variant | C/G | snv | 2.0E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.080 | 19 | 11378051 | missense variant | T/C | snv | 6.3E-03 | 6.2E-03 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
2 | 0.925 | 0.080 | 11 | 5253350 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 1989 | 1989 | ||||
|
1 | 1.000 | 0.040 | 9 | 5055750 | stop gained | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 21 | 34880656 | missense variant | C/T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.851 | 0.200 | 12 | 54293083 | missense variant | G/A | snv | 2.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
7 | 0.851 | 0.200 | 3 | 10146586 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.160 | 3 | 10146603 | stop gained | G/A;C;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 |