Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 |
|
0.100 | 0.885 | 26 | 1994 | 2019 | |||||||
|
0.925 | 0.040 | 21 | 25891795 | missense variant | G/A | snv | 4.0E-05 | 4.2E-05 |
|
0.020 | 1.000 | 2 | 1994 | 1995 | |||||||
|
1.000 | 0.040 | 4 | 9783034 | stop gained | C/A;T | snv | 1.9E-03; 4.0E-06 |
|
0.010 | 1.000 | 1 | 1995 | 1995 | ||||||||
|
0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 |
|
0.100 | 0.810 | 42 | 1996 | 2019 | |||||||
|
0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 |
|
0.100 | 0.793 | 29 | 1996 | 2017 | |||||||
|
0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 |
|
0.100 | 0.854 | 123 | 1997 | 2019 | |||||||
|
0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 |
|
0.020 | 1.000 | 2 | 1997 | 2002 | |||||||
|
1.000 | 0.040 | 6 | 16327755 | missense variant | T/A;G | snv | 3.2E-03; 4.1E-06 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
1.000 | 0.040 | 8 | 56441336 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||
|
0.882 | 0.120 | 13 | 46895833 | missense variant | G/C;T | snv | 2.0E-05; 1.8E-02 |
|
0.010 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
0.677 | 0.360 | 13 | 46834899 | missense variant | G/A | snv | 7.9E-02 | 9.5E-02 |
|
0.080 | 1.000 | 8 | 1998 | 2017 | |||||||
|
0.827 | 0.200 | 5 | 63961061 | missense variant | C/A | snv | 3.7E-03 | 3.8E-03 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
0.827 | 0.240 | 11 | 2169721 | missense variant | C/T | snv | 0.43 | 0.32 |
|
0.010 | < 0.001 | 1 | 1998 | 1998 | |||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.841 | 44 | 1999 | 2019 | |||||||
|
0.708 | 0.200 | 1 | 19666020 | synonymous variant | C/T | snv | 0.15; 8.0E-06 | 0.16 |
|
0.040 | 0.250 | 4 | 1999 | 2012 | |||||||
|
0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 |
|
0.090 | 0.667 | 9 | 2000 | 2015 | ||||||||
|
1.000 | 0.040 | 3 | 114171881 | missense variant | C/A;T | snv | 8.7E-04 |
|
0.010 | < 0.001 | 1 | 2000 | 2000 | ||||||||
|
0.776 | 0.200 | 12 | 13564574 | synonymous variant | G/A | snv | 0.32 | 0.24 |
|
0.010 | < 0.001 | 1 | 2000 | 2000 | |||||||
|
0.742 | 0.200 | 22 | 43162920 | missense variant | A/G | snv | 0.76 | 0.75 |
|
0.010 | < 0.001 | 1 | 2000 | 2000 | |||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.050 | 0.600 | 5 | 2001 | 2019 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.030 | 1.000 | 3 | 2001 | 2011 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.030 | 1.000 | 3 | 2001 | 2011 | |||||||||
|
0.851 | 0.160 | 3 | 7452730 | missense variant | A/T | snv | 0.31 | 0.30 |
|
0.020 | 1.000 | 2 | 2001 | 2016 | |||||||
|
1.000 | 0.040 | 7 | 155070942 | missense variant | C/A;T | snv | 4.3E-02 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.882 | 0.160 | 21 | 29598863 | synonymous variant | G/A | snv | 0.18 | 0.17 |
|
0.010 | 1.000 | 1 | 2001 | 2001 |