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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.742 | 0.160 | 3 | 148741608 | synonymous variant | C/T | snv | 0.49 | 0.41 | 0.010 | < 0.001 | 1 | 1994 | 1994 | |||
|
6 | 0.807 | 0.120 | 11 | 116836082 | missense variant | C/A | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
5 | 0.827 | 0.040 | 11 | 116836193 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||
|
10 | 0.763 | 0.120 | 19 | 44909101 | missense variant | C/G;T | snv | 3.9E-04; 1.0E-05 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
3 | 0.882 | 0.040 | 8 | 27605112 | missense variant | C/G;T | snv | 7.2E-05 | 1.0E-04 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
4 | 0.882 | 0.040 | 17 | 63479897 | missense variant | G/A;T | snv | 3.2E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
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 | ||||
|
4 | 0.882 | 0.040 | 3 | 148741588 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
4 | 0.882 | 0.040 | 17 | 63488704 | missense variant | G/A | snv | 9.1E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
4 | 0.882 | 0.040 | 1 | 230710211 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
8 | 0.776 | 0.200 | 19 | 44907799 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
3 | 0.882 | 0.040 | 1 | 169549874 | missense variant | C/T | snv | 0.11 | 0.12 | 0.020 | 1.000 | 2 | 2000 | 2000 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2000 | 2001 | ||||
|
9 | 0.763 | 0.240 | 19 | 11113361 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
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 | |||
|
5 | 0.827 | 0.160 | 8 | 19954234 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
49 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 0.020 | 0.500 | 2 | 2001 | 2003 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
9 | 0.790 | 0.120 | 19 | 11116930 | missense variant | G/T | snv | 8.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
14 | 0.752 | 0.200 | 19 | 11105407 | stop gained | C/A;G;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
11 | 0.763 | 0.160 | 3 | 186854460 | missense variant | T/C | snv | 3.1E-04 | 7.0E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
9 | 0.790 | 0.080 | 5 | 80065442 | missense variant | G/C | snv | 0.17 | 0.17 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.030 | 1.000 | 3 | 2001 | 2005 | |||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.020 | 1.000 | 2 | 2001 | 2005 |