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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 7 | 44145167 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
24 | 0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 1.000 | 0.040 | 2 | 162144091 | missense variant | T/C;G | snv | 2.7E-03 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
7 | 0.851 | 0.160 | 17 | 81809839 | missense variant | G/A | snv | 7.4E-03 | 6.3E-03 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
4 | 0.882 | 0.160 | 11 | 6269890 | missense variant | G/A | snv | 4.4E-02 | 5.1E-02 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
4 | 0.882 | 0.120 | 7 | 127614533 | missense variant | G/A;T | snv | 1.2E-04; 9.1E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
31 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
3 | 0.925 | 0.120 | 3 | 186854219 | stop gained | G/A;T | snv | 4.4E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
3 | 0.925 | 0.120 | 3 | 186854237 | missense variant | G/A | snv | 3.0E-03 | 2.9E-03 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
3 | 0.925 | 0.120 | 12 | 113398775 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
4 | 0.882 | 0.080 | 13 | 27920364 | missense variant | G/A;T | snv | 2.9E-03 | 0.040 | 0.750 | 4 | 1999 | 2004 | ||||
|
12 | 0.790 | 0.160 | 17 | 41612325 | missense variant | G/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
5 | 0.882 | 0.080 | 13 | 27924519 | missense variant | G/A | snv | 1.3E-03 | 2.0E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
3 | 0.925 | 0.120 | 6 | 160714828 | synonymous variant | C/T | snv | 6.0E-04 | 2.2E-03 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
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 | |||
|
11 | 0.776 | 0.240 | 13 | 113118731 | missense variant | G/A;C | snv | 4.8E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 1.000 | 0.040 | 7 | 80671994 | stop gained | T/C;G | snv | 4.0E-06; 2.4E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 1.000 | 0.040 | 7 | 80666481 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
11 | 0.776 | 0.160 | 3 | 12434111 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
4 | 0.882 | 0.120 | 2 | 181678728 | missense variant | T/C | snv | 0.70 | 0.68 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
4 | 0.882 | 0.120 | 7 | 44147723 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.925 | 0.120 | 1 | 154454574 | missense variant | G/A | snv | 1.3E-02; 4.0E-06 | 5.4E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
5 | 0.882 | 0.200 | 1 | 164559883 | missense variant | G/A | snv | 0.30 | 0.19 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
9 | 0.790 | 0.120 | 3 | 183840614 | missense variant | C/G;T | snv | 0.46; 1.2E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 |