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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.807 | 0.120 | 21 | 31667271 | missense variant | T/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||
|
10 | 0.776 | 0.120 | 2 | 21006196 | missense variant | G/A | snv | 3.4E-04 | 5.0E-04 | 0.010 | 1.000 | 1 | 1995 | 1995 | |||
|
4 | 0.851 | 0.080 | 16 | 1792266 | frameshift variant | T/- | del | 7.0E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
21 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||
|
43 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
16 | 0.732 | 0.200 | 21 | 31667290 | missense variant | A/C;T | snv | 1.4E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
4 | 0.851 | 0.160 | 10 | 43106550 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
2 | 0.925 | 0.080 | 17 | 41624218 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
6 | 0.807 | 0.280 | 5 | 37816010 | missense variant | G/A | snv | 2.3E-03 | 2.7E-03 | 0.010 | 1.000 | 1 | 1997 | 1997 | |||
|
3 | 0.882 | 0.080 | 17 | 41624235 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
5 | 0.851 | 0.080 | 14 | 73198094 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
12 | 0.732 | 0.160 | 21 | 31667356 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
7 | 0.790 | 0.160 | 14 | 81139828 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
3 | 0.882 | 0.080 | 14 | 64425752 | missense variant | G/A | snv | 1.7E-03 | 2.4E-03 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
3 | 0.882 | 0.040 | 14 | 81143641 | missense variant | G/A | snv | 8.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
2 | 0.925 | 0.080 | 6 | 150905747 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
5 | 0.882 | 0.160 | 11 | 64810025 | stop gained | G/A;C | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
3 | 0.882 | 0.040 | 14 | 81143973 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
6 | 0.851 | 0.120 | 21 | 31659806 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
7 | 0.851 | 0.160 | 2 | 219425727 | missense variant | C/A;G;T | snv | 6.5E-05; 5.6E-04 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
13 | 0.724 | 0.240 | 6 | 156778678 | missense variant | C/G | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
49 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
1 | 1.000 | 16 | 82164193 | missense variant | A/T | snv | 4.3E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
6 | 0.827 | 0.160 | 18 | 31598602 | missense variant | G/A | snv | 7.9E-04 | 2.2E-04 | 0.010 | 1.000 | 1 | 2000 | 2000 |