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 | 0.882 | 0.160 | 6 | 160706454 | missense variant | C/A;G | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
3 | 0.925 | 0.160 | 3 | 186672838 | missense variant | C/T | snv | 0.38 | 0.43 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
4 | 0.851 | 0.080 | 3 | 148741190 | missense variant | T/C;G | snv | 4.0E-06; 8.8E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
3 | 0.882 | 0.080 | 2 | 187466977 | missense variant | C/T | snv | 1.3E-02 | 1.4E-02 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
35 | 0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
7 | 0.807 | 0.160 | 1 | 169541191 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
7 | 0.827 | 0.080 | 7 | 80671082 | synonymous variant | C/T | snv | 4.0E-06 | 0.030 | 0.667 | 3 | 1999 | 2001 | ||||
|
7 | 0.827 | 0.080 | 7 | 80671145 | synonymous variant | C/T | snv | 0.030 | 0.667 | 3 | 1999 | 2001 | |||||
|
12 | 0.776 | 0.240 | 1 | 230706148 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
12 | 0.776 | 0.240 | 1 | 230706148 | frameshift variant | G/- | del | 7.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
8 | 0.851 | 0.120 | 19 | 55025227 | missense variant | G/A | snv | 0.85 | 0.83 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
3 | 0.882 | 0.200 | 14 | 24574465 | missense variant | T/C | snv | 8.0E-02 | 5.9E-02 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
40 | 0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
4 | 0.851 | 0.080 | 19 | 6713295 | missense variant | C/G | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
4 | 0.882 | 0.200 | 22 | 38128276 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
19 | 0.724 | 0.280 | 16 | 56983380 | missense variant | A/G | snv | 2.6E-03 | 6.5E-04 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
3 | 0.882 | 0.160 | 6 | 6250887 | missense variant | T/A | snv | 1.8E-02 | 1.9E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
3 | 0.882 | 0.120 | 20 | 38373994 | missense variant | T/C;G | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
7 | 0.827 | 0.160 | 20 | 38318446 | missense variant | G/A;C | snv | 0.46 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
3 | 0.882 | 0.160 | 6 | 6174633 | missense variant | G/A | snv | 0.21 | 0.19 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
1 | 1.000 | 0.080 | 5 | 76732556 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
1 | 1.000 | 0.080 | 1 | 147908067 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 0.925 | 0.160 | 1 | 169603047 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
82 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 0.020 | 0.500 | 2 | 1999 | 2003 | |||||
|
7 | 0.807 | 0.160 | 1 | 11792345 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 |