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 | 0.080 | 10 | 95432511 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
9 | 0.807 | 0.160 | 8 | 19954279 | missense variant | C/T | snv | 4.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
1 | 1.000 | 0.080 | 4 | 147485988 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
1 | 1.000 | 0.080 | 18 | 60372058 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
5 | 0.882 | 0.200 | 3 | 10289835 | missense variant | C/T | snv | 7.0E-03 | 7.3E-03 | 0.710 | 1.000 | 1 | 2002 | 2002 | |||
|
1 | 1.000 | 0.080 | 10 | 95432478 | missense variant | G/C | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
2 | 0.925 | 0.120 | 19 | 7669883 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
1 | 1.000 | 0.080 | 10 | 95399175 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
1 | 1.000 | 0.080 | 19 | 42427074 | missense variant | C/G;T | snv | 2.0E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
1 | 1.000 | 0.080 | 3 | 186853158 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
28 | 0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 | 0.080 | 0.875 | 8 | 2003 | 2018 | |||
|
22 | 0.689 | 0.360 | 13 | 109782884 | missense variant | C/G;T | snv | 0.35 | 0.060 | 1.000 | 6 | 2003 | 2015 | ||||
|
3 | 0.882 | 0.080 | 18 | 60371403 | missense variant | A/C | snv | 2.0E-05 | 1.4E-05 | 0.800 | 1.000 | 5 | 2003 | 2015 | |||
|
2 | 0.925 | 0.120 | 18 | 60371539 | missense variant | A/G | snv | 4.0E-06 | 0.720 | 1.000 | 2 | 2003 | 2008 | ||||
|
10 | 0.776 | 0.240 | 19 | 7122961 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2003 | 2015 | |||||
|
3 | 0.882 | 0.160 | 15 | 89327329 | frameshift variant | AG/- | delins | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 2 | 2003 | 2008 | |||
|
1 | 1.000 | 0.080 | 8 | 26748678 | missense variant | G/A | snv | 5.7E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
1 | 1.000 | 0.080 | 8 | 26748734 | synonymous variant | A/G | snv | 7.8E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.080 | 8 | 26748597 | missense variant | G/A | snv | 1.0E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.080 | 20 | 23036294 | missense variant | T/C;G | snv | 4.0E-06; 3.5E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
6 | 0.827 | 0.120 | 11 | 14789216 | synonymous variant | A/G | snv | 0.63 | 0.64 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
2 | 1.000 | 0.080 | 1 | 26913841 | stop gained | G/A;C | snv | 9.1E-05; 1.8E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.080 | 1 | 26913835 | missense variant | G/A | snv | 3.4E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
1 | 1.000 | 0.080 | 8 | 26756749 | 3 prime UTR variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 |